Hs02994953_cn

• Gene Symbol: GTF2H3
• Assay Reference Genome Location: Chr.12:123639348 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 2967
• Gene Name: general transcription factor IIH subunit 3
• Gene Aliases: BTF2, P34, TFB4, TFIIH
• Location: Chr.12:123633739-123662604 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GTF2H3	NM_001271866.1			NP_001258795.1
	NM_001271867.1			NP_001258796.1
	NM_001271868.1			NP_001258797.1
	NM_001516.4			NP_001507.2
	XM_017019228.1			XP_016874717.1
	AK298128.1
	AK313200.1
	AL558542.3
	AL600169.1
	BC039726.2			AAH39726.1
	BC047868.2			AAH47868.2
	BC065250.1			AAH65250.1
	BG720598.1
	DA953586.1
	DB170244.1
	DB482432.1
	DC319942.1
	HY046873.1
	Z30093.1			CAA82909.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv2926n54	Chr.12:123635436 - 123711309 on Build GRCh38	Gain	GTF2H3 TCTN2
esv2759918	Chr.12:123625575 - 123711309 on Build GRCh38	Gain	EIF2B1 GTF2H3 TCTN2
dgv1566n100	Chr.12:123610211 - 123711309 on Build GRCh38	Gain	DDX55 EIF2B1 GTF2H3 TCTN2
nsv442292	Chr.12:123630500 - 123711307 on Build GRCh38	Gain	EIF2B1 GTF2H3 TCTN2
dgv1567n100	Chr.12:123634608 - 123694870 on Build GRCh38	Gain	GTF2H3 TCTN2
esv35148	Chr.12:123634573 - 123711573 on Build GRCh38	Gain	GTF2H3 TCTN2
dgv309e214	Chr.12:123628443 - 123712471 on Build GRCh38	Gain	EIF2B1 GTF2H3 ATP6V0A2 TCTN2
dgv1568n100	Chr.12:123637829 - 123678203 on Build GRCh38	Loss	GTF2H3 TCTN2
nsv1042181	Chr.12:123552853 - 123668403 on Build GRCh38	Gain	DDX55 EIF2B1 GTF2H3 LOC101927415 TMED2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA metabolism protein, nucleic acid metabolism protein, general transcription factor

Gene Ontology Categories:

Process(es)

nucleotide-excision repair, DNA duplex unwinding
DNA repair
transcription-coupled nucleotide-excision repair
nucleotide-excision repair
nucleotide-excision repair, preincision complex stabilization
nucleotide-excision repair, preincision complex assembly
nucleotide-excision repair, DNA incision, 3'-to lesion
nucleotide-excision repair, DNA incision, 5'-to lesion
transcription initiation from RNA polymerase I promoter
transcription elongation from RNA polymerase I promoter
termination of RNA polymerase I transcription
transcription from RNA polymerase II promoter
transcription initiation from RNA polymerase II promoter
transcription elongation from RNA polymerase II promoter
7-methylguanosine mRNA capping
translation
nucleotide-excision repair, DNA incision
phosphorylation of RNA polymerase II C-terminal domain
global genome nucleotide-excision repair

Function(s)

damaged DNA binding
transcription factor activity, sequence-specific DNA binding
protein kinase activity
protein binding
DNA-dependent ATPase activity
translation factor activity, RNA binding
RNA polymerase II carboxy-terminal domain kinase activity
metal ion binding
protein N-terminus binding