Hs06153412_cn

• Gene Symbol: GTF2H4
• Assay Reference Genome Location: Chr.6:30908174 on build GRCh38
• Cytoband: 6p21.33

Target Gene Details

• Entrez Gene ID: 2968
• Gene Name: general transcription factor IIH subunit 4
• Gene Aliases: P52, TFB2, TFIIH
• Location: Chr.6:30908200-30914103 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GTF2H4	NM_001517.4			NP_001508.1
	AK298058.1
	AK300239.1
	AK309869.1
	BI460355.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1074389	Chr.6:29116522 - 31446623 on Build GRCh38	Deletion	TRIM10 OR10C1 DPCR1 DHX16 HLA-G NRM OR12D3 OR5V1 PSORS1C2 HLA-C HLA-A HCG22 MOG TRIM26 OR2H1 HCG18 HLA-K LINC00243 TRIM39 ATAT1 PSORS1C1 UBD PPP1R18 TRIM39-RPP21 PRR3 MIR877 ZNRD1ASP HCG4B IER3 TRIM40 HCG27 HLA-L HCG9 TRIM31 HLA-J MUC21 MIR4640 MIR6891 PPP1R10 MAS1L TRIM31-AS1 MDC1-AS1 GTF2H4 VARS2 RPP21 HCG8 CCHCR1 MDC1 ZFP57 TUBB HLA-E HLA-B ABCF1 OR12D2 HLA-H TCF19 POU5F1 C6orf136 LOC105375014 OR14J1 HLA-F HCG4 RNF39 GNL1 MUC22 DDR1 HCG20 HCG17 OR2J2 SNORD32B HLA-F-AS1 SFTA2 OR11A1 LOC101929006 GABBR1 C6orf15 PSORS1C3 PPP1R11 ZNRD1 IFITM4P TRIM15 OR2H2 FLOT1 LINC01015 MICA CDSN MRPS18B LOC554223
nsv601481	Chr.6:30454855 - 31316476 on Build GRCh38	Loss	VARS2 DPCR1 CCHCR1 DHX16 MDC1 TUBB HLA-E NRM ABCF1 PSORS1C2 HLA-C TCF19 POU5F1 C6orf136 HCG22 LOC105375014 GNL1 MUC22 DDR1 LINC00243 HCG20 ATAT1 PSORS1C1 SFTA2 PPP1R18 PRR3 MIR877 IER3 C6orf15 HCG27 PSORS1C3 MUC21 MIR4640 FLOT1 PPP1R10 MDC1-AS1 CDSN GTF2H4 MRPS18B
nsv1122126	Chr.6:28628023 - 31244023 on Build GRCh38	Deletion	TRIM10 OR10C1 DPCR1 DHX16 HLA-G NRM OR12D3 OR5V1 PSORS1C2 HLA-A HCG22 MOG TRIM26 OR2H1 HCG18 HLA-K OR2W1 LINC00243 TRIM39 ATAT1 PSORS1C1 OR2B3 UBD PPP1R18 TRIM39-RPP21 PRR3 MIR877 HCG16 ZNRD1ASP HCG4B IER3 TRIM40 HCG27 LINC01623 HCG14 HLA-L HCG9 TRIM31 HLA-J MUC21 MIR4640 PPP1R10 MAS1L TRIM31-AS1 ZNF311 MDC1-AS1 GTF2H4 VARS2 RPP21 HCG8 CCHCR1 LINC01556 MDC1 ZFP57 TUBB HLA-E ABCF1 OR12D2 HLA-H TCF19 POU5F1 C6orf136 LOC105375014 OR14J1 HLA-F HCG4 RNF39 GNL1 MUC22 DDR1 OR2J3 HCG20 HCG17 OR2J2 SNORD32B TRIM27 HLA-F-AS1 SFTA2 LINC00533 OR11A1 LOC101929006 GABBR1 C6orf15 PSORS1C3 LOC100129636 PPP1R11 ZNRD1 IFITM4P TRIM15 OR2H2 FLOT1 LINC01015 CDSN MRPS18B LOC554223
nsv1144137	Chr.6:29720323 - 31338123 on Build GRCh38	Deletion	TRIM10 DPCR1 DHX16 HLA-G NRM PSORS1C2 HLA-C HLA-A HCG22 TRIM26 HCG18 HLA-K LINC00243 TRIM39 ATAT1 PSORS1C1 PPP1R18 TRIM39-RPP21 PRR3 MIR877 ZNRD1ASP HCG4B IER3 TRIM40 HCG27 HLA-L HCG9 TRIM31 HLA-J MUC21 MIR4640 PPP1R10 TRIM31-AS1 MDC1-AS1 GTF2H4 VARS2 RPP21 HCG8 CCHCR1 MDC1 TUBB HLA-E ABCF1 HLA-H TCF19 POU5F1 C6orf136 LOC105375014 HLA-F HCG4 RNF39 GNL1 MUC22 DDR1 HCG20 HCG17 HLA-F-AS1 SFTA2 C6orf15 PSORS1C3 PPP1R11 ZNRD1 IFITM4P TRIM15 FLOT1 CDSN MRPS18B LOC554223
esv3608518	Chr.6:30889700 - 30987504 on Build GRCh38	Gain	VARS2 DPCR1 MUC21 MIR4640 SFTA2 DDR1 GTF2H4
nsv601264	Chr.6:29883666 - 31320716 on Build GRCh38	Loss	TRIM10 DPCR1 DHX16 NRM PSORS1C2 HLA-C HLA-A HCG22 TRIM26 HCG18 HLA-K LINC00243 TRIM39 ATAT1 PSORS1C1 PPP1R18 TRIM39-RPP21 PRR3 MIR877 ZNRD1ASP HCG4B IER3 TRIM40 HCG27 HLA-L HCG9 TRIM31 HLA-J MUC21 MIR4640 PPP1R10 TRIM31-AS1 MDC1-AS1 GTF2H4 VARS2 RPP21 HCG8 CCHCR1 MDC1 TUBB HLA-E ABCF1 HLA-H TCF19 POU5F1 C6orf136 LOC105375014 RNF39 GNL1 MUC22 DDR1 HCG20 HCG17 SFTA2 C6orf15 PSORS1C3 PPP1R11 ZNRD1 TRIM15 FLOT1 CDSN MRPS18B
esv2731791	Chr.6:30404802 - 31346410 on Build GRCh38	Deletion	VARS2 DPCR1 CCHCR1 DHX16 MDC1 TUBB HLA-E NRM ABCF1 PSORS1C2 HLA-C TCF19 POU5F1 C6orf136 HCG22 LOC105375014 GNL1 MUC22 DDR1 LINC00243 HCG20 ATAT1 PSORS1C1 SFTA2 PPP1R18 PRR3 MIR877 IER3 C6orf15 HCG27 PSORS1C3 MUC21 MIR4640 FLOT1 PPP1R10 MDC1-AS1 CDSN GTF2H4 MRPS18B
esv2670269	Chr.6:30498650 - 31067145 on Build GRCh38	Deletion	VARS2 DPCR1 DHX16 MDC1 TUBB NRM ABCF1 C6orf136 HCG22 LOC105375014 GNL1 MUC22 DDR1 LINC00243 HCG20 ATAT1 SFTA2 PPP1R18 PRR3 MIR877 IER3 MUC21 MIR4640 FLOT1 PPP1R10 MDC1-AS1 GTF2H4 MRPS18B
esv3411275	Chr.6:29981607 - 31490616 on Build GRCh38	Duplication	TRIM10 DPCR1 DHX16 NRM PSORS1C2 HLA-C HCG22 HCG26 TRIM26 HCG18 LOC102725068 LINC00243 TRIM39 ATAT1 PSORS1C1 PPP1R18 TRIM39-RPP21 HCP5 PRR3 MIR877 ZNRD1ASP IER3 TRIM40 HCG27 HLA-L TRIM31 HLA-J MUC21 MIR4640 MIR6891 PPP1R10 TRIM31-AS1 MDC1-AS1 GTF2H4 VARS2 RPP21 HCG8 CCHCR1 MDC1 TUBB HLA-E HLA-B ABCF1 TCF19 POU5F1 C6orf136 LOC105375014 RNF39 GNL1 MUC22 DDR1 HCG20 HCG17 SFTA2 C6orf15 PSORS1C3 PPP1R11 ZNRD1 TRIM15 FLOT1 MICA CDSN MRPS18B
nsv525438	Chr.6:30897052 - 30966198 on Build GRCh38	Gain	VARS2 DPCR1 SFTA2 DDR1 GTF2H4
nsv1031677	Chr.6:30889765 - 31005088 on Build GRCh38	Gain	VARS2 DPCR1 MUC21 MIR4640 SFTA2 DDR1 GTF2H4

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
nucleotide-excision repair, DNA incision
phosphorylation of RNA polymerase II C-terminal domain
global genome nucleotide-excision repair

Function(s)

double-stranded DNA binding
transcription factor activity, sequence-specific DNA binding
ATP-dependent DNA helicase activity
protein kinase activity
protein binding
DNA-dependent ATPase activity
RNA polymerase II carboxy-terminal domain kinase activity