Hs01714352_cn

• Gene Symbol: TBCD
• Assay Reference Genome Location: Chr.17:82832464 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	302	NP_078978.2
	AK023903.1	2	271	BAB14718.1
	AK301690.1
	BC109036.1	2	261	AAI09037.1
	BC109037.1	2	261	AAI09038.1
	DA872185.1	2	269

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

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