Hs01539669_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82831326 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	1440	NP_078978.2
	AK023903.1	2	1409	BAB14718.1
	AK301690.1	2	257
	BC109036.1	2	1399	AAI09037.1
	BC109037.1	2	1399	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	FOXK2 TBCD LOC105371944 MIR4525 LOC105376791 WDR45B METRNL B3GNTL1 RAB40B LOC101929552 FN3K ZNF750 FN3KRP
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	MIR4525 LOC105376791 RAB40B TBCD LOC101929552 FN3K ZNF750 FN3KRP
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	C17orf62 ACTG1 NARF SLC16A3 RFNG ALYREF LOC105371925 MIR3186 MIR4525 NPB ANAPC11 MIR6787 TMEM105 ZNF750 NPLOC4 SECTM1 RAC3 SIRT7 TEPSIN SNORD134 PPP1R27 LOC105371944 P4HB C17orf89 LOC105376791 MYADML2 ARL16 LRRC45 B3GNTL1 LOC101929511 ARHGDIA CD7 PCYT2 OGFOD3 FN3K AATK-AS1 CCDC57 MAFG-AS1 SLC25A10 FASN FOXK2 MRPL12 FSCN2 STRA13 PDE6G HEXDC TSPAN10 UTS2R MAFG LOC100130370 WDR45B TEX19 FAAP100 PYCR1 DUS1L RAB40B LINC00482 MCRIP1 GCGR ASPSCR1 LOC105376790 FN3KRP CSNK1D OXLD1 CCDC137 HGS BAHCC1 MIR4740 TBCD AATK MIR6786 NOTUM GPS1 LOC101929552 CEP131 SLC38A10 DCXR
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	C17orf62 NARF SLC16A3 RFNG ALYREF MIR4525 NPB ANAPC11 MIR6787 METRNL ZNF750 SECTM1 RAC3 SIRT7 SNORD134 PPP1R27 LOC105371944 P4HB LOC105376791 MYADML2 LRRC45 B3GNTL1 LOC101929511 ARHGDIA CD7 PCYT2 OGFOD3 FN3K CCDC57 MAFG-AS1 FASN FOXK2 STRA13 HEXDC UTS2R MAFG WDR45B TEX19 PYCR1 DUS1L RAB40B MCRIP1 ASPSCR1 LOC105376790 FN3KRP CSNK1D TBCD NOTUM GPS1 LOC101929552 DCXR
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	CSNK1D SECTM1 C17orf62 NARF FOXK2 TBCD HEXDC MIR4525 UTS2R LOC105376791 WDR45B TEX19 LOC101929511 CD7 RAB40B LOC101929552 OGFOD3 FN3K ZNF750 LOC105376790 FN3KRP

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