Hs03921295_cn

• Gene Symbol: TBC1D24
• Assay Reference Genome Location: Chr.16:2494831 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	C16orf91 STUB1 SSTR5 LUC7L SNRNP25 MIR5587 POLR3K HN1L NPW MIR1225 RPL23AP5 C1QTNF8 WDR24 C16orf59 CCDC78 HAGHL TRAF7 RNPS1 CHTF18 MIR3180-5 BAIAP3 CAPN15 MIR3178 RPS2 CLCN7 NARFL LOC105371045 EME2 JMJD8 LOC652276 FLJ42627 PDPK1 LOC101929280 MSLN LOC105371049 PRSS27 METRN LOC107984876 PTX4 NHLRC4 CEMP1 MIR6767 MSRB1 NDUFB10 CASKIN1 NTN3 MIR4516 DNASE1L2 LOC106660606 DDX11L10 RNF151 HBA2 LOC105371184 MIR6768 ERVK13-1 CCNF SNORD60 GNPTG ECI1 E4F1 SNORA78 RAB40C NME4 CRAMP1 TSC2 MIR6511B1 WASIR2 FBXL16 PRR25 SOX8 MLST8 RHBDF1 DECR2 TMEM8A TPSG1 MAPK8IP3 ATP6V0C UBE2I NTHL1 LOC105371047 HBZ METTL26 FAM173A BRICD5 ABCA17P LMF1-AS1 SSTR5-AS1 LOC100134368 TBL3 TSR3 HBA1 TMEM204 HAGH MIR940 LOC729652 LOC105371046 MCRIP2 ABCA3 UNKL MIR6859-4 MIR3177 SPSB3 ZNF598 RAB11FIP3 RGS11 RHOT2 SYNGR3 MIR4717 TPSAB1 SNHG19 PKD1 PDIA2 PRR35 GFER LOC100287175 LINC00235 NUBP2 HBM FAHD1 TBC1D24 NPRL3 WDR90 MPG SNHG9 RPUSD1 AXIN1 NME3 MIR662 FAM234A HS3ST6 LOC107987233 IGFALS MRPL28 SLC9A3R2 AMDHD2 RPL3L RAB26 LOC105371038 TELO2 RHBDL1 CACNA1H MEIOB WFIKKN1 PIGQ SNORA10 CCDC154 LMF1 GNG13 MRPS34 IFT140 HBQ1 LINC00254 NOXO1 PGP TPSD1 MIR3677 KCTD5 ARHGDIG PRSS29P SNORA64 MIR3176 TPSB2
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	PRSS27 PRSS41 MIR3178 CEMP1 AMDHD2 PRSS33 SRRM2-AS1 SRRM2 LOC652276 FLJ42627 TBC1D24 PDPK1 KCTD5 TCEB2 ATP6V0C PRSS21 ERVK13-1
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	ABCA17P CEMP1 AMDHD2 MIR6767 RAB26 CASKIN1 MIR940 LOC729652 NTN3 MIR4516 ABCA3 DNASE1L2 LOC106660606 MIR1225 C16orf59 MIR6768 TRAF7 RNPS1 CCNF MIR3180-5 SNORD60 MIR4717 ECI1 MIR3178 E4F1 SNHG19 PKD1 TSC2 MIR6511B1 LOC652276 TBC1D24 PGP PDPK1 MIR3677 MLST8 ATP6V0C LOC105371049 BRICD5
nsv833121	Chr.16:2360975 - 2518228 on Build GRCh38	Loss	ABCA17P TBC1D24 MIR6767 C16orf59 MIR6768 ATP6V0C LOC729652 NTN3 CCNF

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