Hs03010577_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82831511 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	1255	NP_078978.2
	AK023903.1	2	1224	BAB14718.1
	AK301690.1
	BC109036.1	2	1214	AAI09037.1
	BC109037.1	2	1214	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 METRNL LOC105376791 WDR45B MIR4525 TBCD B3GNTL1 LOC105371944 ZNF750 RAB40B FN3KRP LOC101929552 FN3K
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	ZNF750 LOC105376791 MIR4525 RAB40B FN3KRP LOC101929552 TBCD FN3K
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	LOC105376791 NPB RAC3 HEXDC MAFG LOC105371944 SNORD134 FASN MIR3186 SLC25A10 AATK NARF PDE6G LOC105371925 SIRT7 GCGR CEP131 MIR6787 FOXK2 OXLD1 PCYT2 LOC100130370 ALYREF MCRIP1 MAFG-AS1 ANAPC11 CCDC137 AATK-AS1 TSPAN10 STRA13 RAB40B FN3KRP FN3K MIR4740 MRPL12 LINC00482 HGS PYCR1 MIR6786 ARL16 TBCD P4HB B3GNTL1 CSNK1D SLC16A3 RFNG LOC101929552 ARHGDIA TMEM105 SECTM1 DUS1L TEX19 NPLOC4 NOTUM LOC101929511 WDR45B FSCN2 SLC38A10 MIR4525 CCDC57 OGFOD3 C17orf62 BAHCC1 FAAP100 CD7 ACTG1 LOC105376790 UTS2R GPS1 TEPSIN DCXR ZNF750 MYADML2 LRRC45 C17orf89 ASPSCR1 PPP1R27
nsv1057589	Chr.17:82815790 - 82852057 on Build GRCh38	Loss	ZNF750 TBCD
nsv833576	Chr.17:82769162 - 82847512 on Build GRCh38	Gain	ZNF750 TBCD
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	LOC105376791 NPB RAC3 HEXDC MAFG LOC105371944 SNORD134 FASN NARF SIRT7 MIR6787 FOXK2 PCYT2 ALYREF MCRIP1 MAFG-AS1 ANAPC11 STRA13 RAB40B FN3KRP FN3K METRNL PYCR1 TBCD P4HB B3GNTL1 CSNK1D SLC16A3 RFNG LOC101929552 ARHGDIA SECTM1 DUS1L TEX19 NOTUM LOC101929511 WDR45B MIR4525 CCDC57 OGFOD3 C17orf62 CD7 LOC105376790 UTS2R GPS1 DCXR ZNF750 MYADML2 LRRC45 ASPSCR1 PPP1R27
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	TEX19 FOXK2 LOC101929511 LOC105376791 WDR45B MIR4525 OGFOD3 TBCD C17orf62 HEXDC CD7 CSNK1D LOC105376790 UTS2R NARF ZNF750 RAB40B FN3KRP LOC101929552 FN3K SECTM1

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