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

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