Hs03943030_cn

• Gene Symbol: TBC1D24
• Assay Reference Genome Location: Chr.16:2489733 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 57465
• Gene Name: TBC1 domain family member 24
• Gene Aliases: DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6
• Location: Chr.16:2475104-2509669 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D24	NM_001199107.1			NP_001186036.1
	NM_020705.2			NP_065756.1
	XM_017023493.1			XP_016878982.1
	XM_017023494.1			XP_016878983.1
	XM_017023495.1			XP_016878984.1
	AB032997.1
	BC112389.1			AAI12390.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	RHBDF1 MIR6768 RGS11 PTX4 NPRL3 HAGHL RAB26 SNRNP25 MIR6859-4 PIGQ METTL26 TSR3 SNHG19 RPUSD1 MAPK8IP3 HAGH MIR940 CASKIN1 CLCN7 LOC729652 MIR6511B1 SNORA78 GNG13 CHTF18 PRSS27 LOC105371038 POLR3K LOC105371184 SYNGR3 RPL3L HBA2 C16orf91 LUC7L DDX11L10 PGP MIR4516 LOC100287175 NUBP2 GFER RAB11FIP3 HBQ1 HBM SNORA64 TMEM8A LMF1 FAM173A CAPN15 NPW TELO2 HN1L JMJD8 NTN3 PRSS29P LOC107987233 LOC107984876 CRAMP1 NME4 CACNA1H ABCA3 LOC652276 WASIR2 CEMP1 UNKL MIR3677 MSRB1 SSTR5 TBL3 IFT140 HBZ RPS2 LOC105371046 SNORD60 SLC9A3R2 KCTD5 RHBDL1 HS3ST6 LINC00235 MIR4717 CCDC154 RNF151 GNPTG TPSD1 AMDHD2 PDIA2 NME3 MPG ZNF598 SNORA10 SPSB3 LOC101929280 PKD1 STUB1 TPSB2 NTHL1 HBA1 MSLN LOC105371049 FAHD1 TPSAB1 RNPS1 RAB40C CCDC78 SOX8 TSC2 ECI1 LOC106660606 FBXL16 DNASE1L2 MLST8 BRICD5 MIR3178 FAM234A SNHG9 LINC00254 LOC105371047 RPL23AP5 SSTR5-AS1 LMF1-AS1 WFIKKN1 NOXO1 MRPL28 NARFL TBC1D24 PDPK1 ERVK13-1 BAIAP3 ABCA17P C16orf59 RHOT2 LOC105371045 TPSG1 WDR24 METRN TMEM204 UBE2I MIR662 EME2 ATP6V0C E4F1 CCNF IGFALS MIR5587 MIR3180-5 NHLRC4 MEIOB MIR3177 ARHGDIG MCRIP2 TRAF7 MIR6767 WDR90 AXIN1 MRPS34 LOC100134368 PRR35 C1QTNF8 MIR1225 NDUFB10 DECR2 FLJ42627 MIR3176 PRR25
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	ERVK13-1 CEMP1 PRSS27 PRSS33 AMDHD2 SRRM2-AS1 SRRM2 PRSS41 PRSS21 MIR3178 TCEB2 ATP6V0C KCTD5 TBC1D24 LOC652276 FLJ42627 PDPK1
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	MIR6768 MIR4717 ABCA17P C16orf59 RAB26 AMDHD2 NTN3 SNHG19 ATP6V0C PKD1 E4F1 CCNF MIR940 ABCA3 CASKIN1 LOC729652 LOC652276 MIR6511B1 LOC105371049 CEMP1 MIR3677 MIR3180-5 RNPS1 TRAF7 TSC2 MIR6767 ECI1 LOC106660606 SNORD60 DNASE1L2 MLST8 BRICD5 MIR3178 MIR1225 PGP MIR4516 TBC1D24 PDPK1
nsv833121	Chr.16:2360975 - 2518228 on Build GRCh38	Loss	MIR6768 NTN3 ABCA17P C16orf59 ATP6V0C CCNF TBC1D24 LOC729652 MIR6767

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

neuron projection development
positive regulation of GTPase activity
regulation of cilium assembly

Function(s)

GTPase activator activity
protein binding