Hs02924401_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82830498 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZNF750	NM_024702.2	3	2127	NP_078978.2
	AK023903.1	3	2096	BAB14718.1
	AK301690.1	4	903
	BC109036.1	3	2086	AAI09037.1
	BC109037.1	3	2086	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	LOC105371944 FN3K MIR4525 LOC101929552 B3GNTL1 TBCD FOXK2 WDR45B LOC105376791 FN3KRP ZNF750 METRNL RAB40B
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	LOC105376791 FN3K FN3KRP ZNF750 MIR4525 RAB40B LOC101929552 TBCD
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	SNORD134 NPLOC4 ARL16 P4HB MIR6786 LOC101929552 SECTM1 TBCD CCDC57 TEX19 BAHCC1 GCGR FOXK2 WDR45B CEP131 AATK-AS1 SLC38A10 MRPL12 SIRT7 ACTG1 FSCN2 MCRIP1 CCDC137 LOC105371944 RFNG LRRC45 ASPSCR1 LOC100130370 FN3K HEXDC ALYREF MAFG UTS2R LOC105376790 AATK MYADML2 DUS1L FN3KRP FAAP100 SLC16A3 RAC3 SLC25A10 STRA13 MIR3186 ARHGDIA NOTUM ANAPC11 TMEM105 B3GNTL1 NARF PCYT2 MIR4740 LOC105376791 TSPAN10 C17orf62 ZNF750 LINC00482 MIR6787 PYCR1 CSNK1D LOC105371925 DCXR CD7 GPS1 HGS NPB MAFG-AS1 MIR4525 TEPSIN FASN PPP1R27 OXLD1 PDE6G LOC101929511 OGFOD3 RAB40B C17orf89
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	SNORD134 P4HB LOC101929552 SECTM1 TBCD CCDC57 TEX19 FOXK2 WDR45B SIRT7 MCRIP1 LOC105371944 RFNG LRRC45 ASPSCR1 FN3K HEXDC ALYREF MAFG UTS2R LOC105376790 MYADML2 DUS1L FN3KRP SLC16A3 RAC3 STRA13 ARHGDIA NOTUM ANAPC11 B3GNTL1 NARF PCYT2 LOC105376791 C17orf62 ZNF750 MIR6787 PYCR1 CSNK1D DCXR CD7 GPS1 NPB MAFG-AS1 MIR4525 FASN PPP1R27 LOC101929511 METRNL OGFOD3 RAB40B
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	CD7 FN3K MIR4525 HEXDC LOC101929552 SECTM1 UTS2R TBCD TEX19 LOC105376790 FOXK2 NARF WDR45B LOC101929511 LOC105376791 C17orf62 FN3KRP ZNF750 OGFOD3 RAB40B CSNK1D

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