OGG1 8-oxoguanine DNA glycosylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: OGG1provided by HGNC
Official Full Name: 8-oxoguanine DNA glycosylaseprovided by HGNC
Primary source: HGNC:HGNC:8125
See related: Ensembl:ENSG00000114026 MIM:601982; AllianceGenome:HGNC:8125
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HMMH; MUTM; OGH1; HOGG1
Summary: This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]
Expression: Ubiquitous expression in kidney (RPKM 5.9), lymph node (RPKM 5.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (9749952..9783108)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (9741907..9758605)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (9791636..9808334)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural basis for human OGG1 processing 8-oxodGuo within nucleosome core particles.
Title: Structural basis for human OGG1 processing 8-oxodGuo within nucleosome core particles.
8-Oxoguanine DNA Glycosylase1 conceals oxidized guanine in nucleoprotein-associated RNA of respiratory syncytial virus.
Title: 8-Oxoguanine DNA Glycosylase1 conceals oxidized guanine in nucleoprotein-associated RNA of respiratory syncytial virus.
OGG1: An emerging multifunctional therapeutic target for the treatment of diseases caused by oxidative DNA damage.
Title: OGG1: An emerging multifunctional therapeutic target for the treatment of diseases caused by oxidative DNA damage.
Human 8-oxoguanine glycosylase OGG1 binds nucleosome at the dsDNA ends and the super-helical locations.
Title: Human 8-oxoguanine glycosylase OGG1 binds nucleosome at the dsDNA ends and the super-helical locations.
OGG1 prevents atherosclerosis-induced vascular endothelial cell injury through mediating DNA damage repair.
Title: OGG1 prevents atherosclerosis-induced vascular endothelial cell injury through mediating DNA damage repair.
SIRT2 promotes base excision repair by transcriptionally activating OGG1 in an ATM/ATR-dependent manner.
Title: SIRT2 promotes base excision repair by transcriptionally activating OGG1 in an ATM/ATR-dependent manner.
Association between polymorphisms of the DNA repair genes RAD51 and OGG1 and risk of cardiovascular disease.
Title: Association between polymorphisms of the DNA repair genes RAD51 and OGG1 and risk of cardiovascular disease.
Single-molecule analysis of purified proteins and nuclear extracts: Insights from 8-oxoguanine glycosylase 1.
Title: Single-molecule analysis of purified proteins and nuclear extracts: Insights from 8-oxoguanine glycosylase 1.
The 24-h profile of the DNA repair enzyme 8-oxoguanine glycosylase 1 (OGG1) is associated with age, TNF-alpha, and waist circumference in healthy adults.
Title: The 24-h profile of the DNA repair enzyme 8-oxoguanine glycosylase 1 (OGG1) is associated with age, TNF-α, and waist circumference in healthy adults.
Investigation of APE1 and OGG1 expression in chronic hemodialysis patients.
Title: Investigation of APE1 and OGG1 expression in chronic hemodialysis patients.

Submit: New GeneRIF Correction See all GeneRIFs (500)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nonpapillary renal cell carcinoma MedGen: CN074294 OMIM: 144700 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat appears to upregulate OGG1 expression by sequestrating AP-4	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-79567 (e-PCR)
- UniSTS:103687

RH78923 (e-PCR)
- UniSTS:72512

G67288 (e-PCR)
- UniSTS:186453

G67289 (e-PCR)
- UniSTS:186454

SHGC-76687 (e-PCR)
- UniSTS:52834

csnpogg1-pcr5-1 (e-PCR)
- UniSTS:243060

SHGC-76689 (e-PCR)
- UniSTS:34774

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA Inferred from Electronic Annotation more info
enables damaged DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables endonuclease activity	TAS Traceable Author Statement more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables oxidized purine DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables oxidized purine nucleobase lesion DNA N-glycosylase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IGI Inferred from Genetic Interaction more info	PubMed
involved_in base-excision repair	TAS Traceable Author Statement more info	PubMed
involved_in base-excision repair, AP site formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in depurination	TAS Traceable Author Statement more info
involved_in depyrimidination	TAS Traceable Author Statement more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of double-strand break repair via single-strand annealing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression via chromosomal CpG island demethylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to folic acid	IEA Inferred from Electronic Annotation more info
involved_in response to light stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in response to radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: N-glycosylase/DNA lyase

Names: 8-hydroxyguanine DNA glycosylase; AP lyase; DNA-apurinic or apyrimidinic site lyase; OGG1 type 1f

NP_001341577.1

EC 4.2.99.18

NP_001341578.1

EC 4.2.99.18

NP_001341579.1

EC 4.2.99.18

NP_001341580.1

EC 4.2.99.18

NP_001341581.1

EC 4.2.99.18

NP_002533.1

EC 4.2.99.18

NP_058212.1

EC 4.2.99.18

NP_058213.1

EC 4.2.99.18

NP_058214.1

EC 4.2.99.18

NP_058434.1

EC 4.2.99.18

NP_058436.1

EC 4.2.99.18

NP_058437.1

EC 4.2.99.18

NP_058438.1

EC 4.2.99.18

XP_016861982.1

EC 4.2.99.18

XP_016861983.1

EC 4.2.99.18

XP_016861984.1

EC 4.2.99.18

XP_016861986.1

EC 4.2.99.18

XP_047304156.1

EC 4.2.99.18

XP_047304157.1

EC 4.2.99.18

XP_047304158.1

EC 4.2.99.18

XP_047304159.1

EC 4.2.99.18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012106.2 RefSeqGene

Range

5002..12457

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001354648.2 → NP_001341577.1 N-glycosylase/DNA lyase isoform 1d

Status: REVIEWED

Source sequence(s)

AC022382

Conserved Domains (1) summary

TIGR00588
Location:11 → 189

ogg; 8-oxoguanine DNA-glycosylase (ogg)
NM_001354649.2 → NP_001341578.1 N-glycosylase/DNA lyase isoform 1e

Status: REVIEWED

Source sequence(s)

AC022382

Conserved Domains (1) summary

TIGR00588
Location:11 → 217

ogg; 8-oxoguanine DNA-glycosylase (ogg)
NM_001354650.2 → NP_001341579.1 N-glycosylase/DNA lyase isoform 2f

Status: REVIEWED

Source sequence(s)

AC022382

UniProtKB/TrEMBL

A0A9L9PXU1

Related

ENSP00000516725.1, ENST00000707074.1

Conserved Domains (1) summary

TIGR00588
Location:11 → 249

ogg; 8-oxoguanine DNA-glycosylase (ogg)
NM_001354651.2 → NP_001341580.1 N-glycosylase/DNA lyase isoform 2g

Status: REVIEWED

Source sequence(s)

AC022382

UniProtKB/TrEMBL

E5KPS3

Conserved Domains (1) summary

TIGR00588
Location:11 → 300

ogg; 8-oxoguanine DNA-glycosylase (ogg)
NM_001354652.2 → NP_001341581.1 N-glycosylase/DNA lyase isoform 2h

Status: REVIEWED

Source sequence(s)

AC022382

Conserved Domains (1) summary

TIGR00588
Location:11 → 249

ogg; 8-oxoguanine DNA-glycosylase (ogg)
NM_001434445.1 → NP_001421374.1 N-glycosylase/DNA lyase isoform 3a

Status: REVIEWED

Source sequence(s)

AC022382
NM_001434446.1 → NP_001421375.1 N-glycosylase/DNA lyase isoform 3b

Status: REVIEWED

Source sequence(s)

AC022382
NM_001434447.1 → NP_001421376.1 N-glycosylase/DNA lyase isoform 4a

Status: REVIEWED

Source sequence(s)

AC022382
NM_001434448.1 → NP_001421377.1 N-glycosylase/DNA lyase isoform 4b

Status: REVIEWED

Source sequence(s)

AC022382
NM_001434449.1 → NP_001421378.1 N-glycosylase/DNA lyase isoform 4c

Status: REVIEWED

Source sequence(s)

AC022382
NM_001434450.1 → NP_001421379.1 N-glycosylase/DNA lyase isoform 4d

Status: REVIEWED

Source sequence(s)

AC022382
NM_002542.6 → NP_002533.1 N-glycosylase/DNA lyase isoform 1a

See identical proteins and their annotated locations for NP_002533.1

Status: REVIEWED

Description

Transcript Variant: Transcript variant 1a represents the predominant form of this gene.

Source sequence(s)

BM847736, U88527, Y11838

Consensus CDS

CCDS2581.1

UniProtKB/Swiss-Prot

A8K1E3, O00390, O00670, O00705, O14876, O15527, O95488, P78554, Q9BW42, Q9UIK0, Q9UIK1, Q9UIK2, Q9UL34, Q9Y2C0, Q9Y2C1, Q9Y6C3, Q9Y6C4

UniProtKB/TrEMBL

E5KPN1, E5KPS3

Related

ENSP00000342851.7, ENST00000344629.12

Conserved Domains (1) summary

TIGR00588
Location:11 → 328

ogg; 8-oxoguanine DNA-glycosylase (ogg)
NM_016819.4 → NP_058212.1 N-glycosylase/DNA lyase isoform 1b

See identical proteins and their annotated locations for NP_058212.1

Status: REVIEWED

Description

Transcript Variant: Transcript variant 1b contains a 244 bp insertion between exons 6 and 7, as compared to the predominant transcript variant 1a.

Source sequence(s)

AB019532, AC022382, BM847736, U88527, Y11838

Consensus CDS

CCDS43046.1

UniProtKB/TrEMBL

E5KPS3

Related

ENSP00000345520.5, ENST00000339511.9

Conserved Domains (3) summary

TIGR00588
Location:11 → 317

ogg; 8-oxoguanine DNA-glycosylase (ogg)

cd00056
Location:139 → 316

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

pfam07934
Location:25 → 141

OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
NM_016820.4 → NP_058213.1 N-glycosylase/DNA lyase isoform 1c

See identical proteins and their annotated locations for NP_058213.1

Status: REVIEWED

Description

Transcript Variant: Transcript variant 1c contains a 17 bp insertion before exon 7, as compared to the predominant transcript variant 1a.

Source sequence(s)

AB019532, BM847736, U88527, U96710, Y11838

Consensus CDS

CCDS2580.1

UniProtKB/TrEMBL

E5KPN0, E5KPS2

Related

ENSP00000305584.7, ENST00000302003.11

Conserved Domains (3) summary

TIGR00588
Location:11 → 316

ogg; 8-oxoguanine DNA-glycosylase (ogg)

cd00056
Location:139 → 316

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

pfam07934
Location:25 → 141

OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
NM_016821.3 → NP_058214.1 N-glycosylase/DNA lyase isoform 2a

See identical proteins and their annotated locations for NP_058214.1

Status: REVIEWED

Description

Transcript Variant: Transcript variant 2a contains an alternate exon 8 instead of exon 7, as compared to the predominant transcript variant 1a.

Source sequence(s)

AW614399, BM847736, U88620

Consensus CDS

CCDS2576.1

UniProtKB/TrEMBL

E5KPM5, E5KPS3

Related

ENSP00000306561.7, ENST00000302036.12

Conserved Domains (3) summary

TIGR00588
Location:11 → 322

ogg; 8-oxoguanine DNA-glycosylase (ogg)

cd00056
Location:139 → 319

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

pfam07934
Location:25 → 141

OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
NM_016826.3 → NP_058434.1 N-glycosylase/DNA lyase isoform 2b

See identical proteins and their annotated locations for NP_058434.1

Status: REVIEWED

Description

Transcript Variant: Transcript variant 2b contains an alternate exon 8 and skips exons 5 and 6, as compared to the predominant transcript variant 1a.

Source sequence(s)

AB019528, AW614399, BM847736, U88527

Consensus CDS

CCDS2577.1

UniProtKB/TrEMBL

E5KPM6

Related

ENSP00000344899.6, ENST00000352937.6

Conserved Domains (2) summary

cd00056
Location:139 → 273

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

pfam07934
Location:25 → 141

OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
NM_016827.3 → NP_058436.1 N-glycosylase/DNA lyase isoform 2c

See identical proteins and their annotated locations for NP_058436.1

Status: REVIEWED

Description

Transcript Variant: Transcript variant 2c contains an alternate exon 8 and skips exons 4 to 6, as compared to the predominant transcript variant 1a.

Source sequence(s)

AB019529, AW614399, BM847736, U88527

Consensus CDS

CCDS2578.1

UniProtKB/TrEMBL

E5KPM8, H7C0A1

Related

ENSP00000373337.5, ENST00000383826.9

Conserved Domains (2) summary

pfam07934
Location:25 → 141

OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain

cl23768
Location:139 → 168

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
NM_016828.3 → NP_058437.1 N-glycosylase/DNA lyase isoform 2d

See identical proteins and their annotated locations for NP_058437.1

Status: REVIEWED

Description

Transcript Variant: Transcript variant 2d contains an alternate exon 8 and a 100 bp insertion, as compared to the predominant transcript variant 1a.

Source sequence(s)

AB019530, AW614399, BM847736, U88527

Consensus CDS

CCDS2579.1

UniProtKB/TrEMBL

E5KPM7, E5KPS3

Related

ENSP00000305527.8, ENST00000302008.12

Conserved Domains (3) summary

TIGR00588
Location:11 → 316

ogg; 8-oxoguanine DNA-glycosylase (ogg)

cd00056
Location:139 → 317

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

pfam07934
Location:25 → 141

OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
NM_016829.3 → NP_058438.1 N-glycosylase/DNA lyase isoform 2e

See identical proteins and their annotated locations for NP_058438.1

Status: REVIEWED

Description

Transcript Variant: Transcript variant 2e contains an alternate exon 8 and a 53 bp insertion between exons 6 and 8, as compared to the predominant transcript variant 1a.

Source sequence(s)

AB019531, AW614399, BM847736, U88527

Consensus CDS

CCDS46742.1

UniProtKB/TrEMBL

E5KPM9, E5KPS3

Related

ENSP00000403598.2, ENST00000449570.6

Conserved Domains (1) summary

TIGR00588
Location:11 → 316

ogg; 8-oxoguanine DNA-glycosylase (ogg)

RNA

NR_148930.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC022382
NR_148931.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC022382
NR_148932.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC022382

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

9749952..9783108

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047448200.1 → XP_047304156.1 N-glycosylase/DNA lyase isoform X4
XM_017006497.3 → XP_016861986.1 N-glycosylase/DNA lyase isoform X5
XM_047448201.1 → XP_047304157.1 N-glycosylase/DNA lyase isoform X6
XM_047448202.1 → XP_047304158.1 N-glycosylase/DNA lyase isoform X6
XM_017006494.3 → XP_016861983.1 N-glycosylase/DNA lyase isoform X2
XM_017006495.3 → XP_016861984.1 N-glycosylase/DNA lyase isoform X3
XM_017006493.3 → XP_016861982.1 N-glycosylase/DNA lyase isoform X1

UniProtKB/TrEMBL

E5KPS2

Conserved Domains (2) summary

cd00056
Location:139 → 250

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

pfam07934
Location:25 → 141

OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
XM_047448203.1 → XP_047304159.1 N-glycosylase/DNA lyase isoform X7

Related

ENSP00000393726.1, ENST00000429146.5