Hs00218660_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82831098 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	1668	NP_078978.2
	AK023903.1	2	1637	BAB14718.1
	AK301690.1	2	485
	BC109036.1	2	1627	AAI09037.1
	BC109037.1	2	1627	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 ZNF750 WDR45B B3GNTL1 RAB40B FOXK2 METRNL FN3K LOC105376791 LOC101929552 FN3KRP MIR4525 TBCD
nsv833575	Chr.17:82660876 - 82847512 on Build GRCh38	Loss	FN3K LOC105376791 LOC101929552 ZNF750 FN3KRP RAB40B MIR4525 TBCD
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	SLC38A10 P4HB MCRIP1 LRRC45 ARHGDIA AATK C17orf89 CCDC137 SLC25A10 OXLD1 ZNF750 TEX19 GPS1 ANAPC11 PDE6G MAFG-AS1 DCXR PPP1R27 MIR4525 FASN NARF DUS1L PYCR1 HEXDC WDR45B SECTM1 FN3K SNORD134 NPLOC4 HGS PCYT2 CD7 BAHCC1 TSPAN10 LOC100130370 ALYREF NPB ACTG1 UTS2R SLC16A3 LOC105376790 LOC101929511 B3GNTL1 RAC3 CCDC57 NOTUM STRA13 GCGR MRPL12 FOXK2 MYADML2 LOC101929552 RFNG LINC00482 FAAP100 FN3KRP AATK-AS1 FSCN2 TEPSIN CEP131 C17orf62 LOC105371925 LOC105371944 MIR6786 MAFG RAB40B TMEM105 LOC105376791 SIRT7 ASPSCR1 MIR4740 ARL16 OGFOD3 CSNK1D MIR6787 TBCD MIR3186
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	P4HB MCRIP1 LRRC45 ARHGDIA ZNF750 TEX19 GPS1 ANAPC11 MAFG-AS1 DCXR PPP1R27 MIR4525 FASN NARF DUS1L PYCR1 HEXDC WDR45B SECTM1 FN3K SNORD134 PCYT2 CD7 ALYREF NPB UTS2R SLC16A3 LOC105376790 LOC101929511 B3GNTL1 RAC3 CCDC57 NOTUM STRA13 FOXK2 MYADML2 LOC101929552 RFNG FN3KRP C17orf62 LOC105371944 MAFG RAB40B METRNL LOC105376791 SIRT7 ASPSCR1 OGFOD3 CSNK1D MIR6787 TBCD
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	UTS2R LOC105376790 LOC101929511 C17orf62 HEXDC ZNF750 WDR45B TEX19 RAB40B FOXK2 SECTM1 FN3K LOC105376791 CD7 LOC101929552 OGFOD3 CSNK1D FN3KRP MIR4525 TBCD NARF

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