Hs01404754_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82831811 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 6904
• Gene Name: tubulin folding cofactor D
• Gene Aliases: SSD-1, tfcD
• Location: Chr.17:82752048-82943186 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBCD	NM_005993.4			NP_005984.3
	XM_005256396.4			XP_005256453.1
	XM_006722290.2			XP_006722353.1
	XM_011523589.1			XP_011521891.1
	XM_011523590.1			XP_011521892.1
	XM_011523591.1			XP_011521893.1
	XM_011523593.1			XP_011521895.1
	XM_017024987.1			XP_016880476.1
	XM_017024988.1			XP_016880477.1
	XM_017024990.1			XP_016880479.1
	AB023205.1
	AJ006417.1			CAA07022.1
	AK091959.1			BAC03777.1
	AK293471.1
	AL133562.1			CAB63716.1
	BC003094.1			AAH03094.1

Target Gene Details

• Entrez Gene ID: 79755
• Gene Name: zinc finger protein 750
• Gene Aliases: ZFP750
• Location: Chr.17:82829434-82840055 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZNF750	NM_024702.2	2	955	NP_078978.2
	AK023903.1	2	924	BAB14718.1
	AK301690.1
	BC109036.1	2	914	AAI09037.1
	BC109037.1	2	914	AAI09038.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1067553	Chr.17:82530808 - 83091923 on Build GRCh38	Loss	MIR4525 TBCD METRNL LOC105376791 ZNF750 FOXK2 B3GNTL1 FN3K FN3KRP LOC101929552 RAB40B LOC105371944 WDR45B
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	MIR4525 FN3K TBCD FN3KRP LOC101929552 LOC105376791 RAB40B ZNF750
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	MAFG PPP1R27 SNORD134 MIR6787 P4HB ZNF750 TMEM105 B3GNTL1 NOTUM C17orf62 TEPSIN ANAPC11 PCYT2 LOC105371944 LINC00482 CD7 UTS2R TBCD C17orf89 LOC105371925 FSCN2 GCGR NARF TSPAN10 FN3K SLC38A10 FAAP100 GPS1 MAFG-AS1 SECTM1 SLC16A3 LOC101929552 RAB40B ARHGDIA MIR4525 CEP131 MYADML2 OGFOD3 TEX19 ARL16 SLC25A10 SIRT7 STRA13 NPB LOC100130370 MIR4740 FASN RFNG ACTG1 DCXR WDR45B ASPSCR1 LRRC45 PYCR1 LOC105376790 OXLD1 HEXDC PDE6G CSNK1D RAC3 MRPL12 AATK LOC105376791 CCDC137 DUS1L FOXK2 HGS MIR3186 CCDC57 AATK-AS1 MIR6786 NPLOC4 BAHCC1 MCRIP1 FN3KRP LOC101929511 ALYREF
nsv1057589	Chr.17:82815790 - 82852057 on Build GRCh38	Loss	TBCD ZNF750
nsv833576	Chr.17:82769162 - 82847512 on Build GRCh38	Gain	TBCD ZNF750
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	MAFG PPP1R27 SNORD134 MIR6787 P4HB ZNF750 B3GNTL1 NOTUM C17orf62 ANAPC11 PCYT2 LOC105371944 CD7 UTS2R TBCD NARF FN3K GPS1 MAFG-AS1 SECTM1 SLC16A3 LOC101929552 RAB40B ARHGDIA MIR4525 MYADML2 OGFOD3 TEX19 SIRT7 STRA13 NPB FASN RFNG DCXR WDR45B ASPSCR1 LRRC45 PYCR1 LOC105376790 METRNL HEXDC CSNK1D RAC3 LOC105376791 DUS1L FOXK2 CCDC57 MCRIP1 FN3KRP LOC101929511 ALYREF
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	CD7 MIR4525 UTS2R LOC105376790 TBCD OGFOD3 TEX19 HEXDC CSNK1D LOC105376791 ZNF750 FOXK2 NARF FN3K C17orf62 FN3KRP SECTM1 LOC101929511 LOC101929552 RAB40B WDR45B

More Information

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

protein folding
tubulin complex assembly
post-chaperonin tubulin folding pathway
negative regulation of cell-substrate adhesion
negative regulation of microtubule polymerization
adherens junction assembly
positive regulation of GTPase activity
bicellular tight junction assembly
transcription from RNA polymerase II promoter
epidermis development
cell differentiation
positive regulation of transcription from RNA polymerase II promoter

Function(s)

GTPase activator activity
protein binding
beta-tubulin binding
chaperone binding
core promoter sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
metal ion binding