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

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