Hs03948996_cn

• Gene Symbol: TBC1D24
• Assay Reference Genome Location: Chr.16:2493883 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	ZNF598 MIR6768 RPL3L NME4 CCDC78 MCRIP2 SNHG19 SPSB3 PRSS29P POLR3K MIR5587 TBL3 HN1L HBZ WDR90 LMF1-AS1 MIR4516 NME3 MPG LOC729652 WFIKKN1 RAB40C STUB1 MIR6511B1 RNF151 PDIA2 MIR4717 SOX8 SLC9A3R2 HBA2 MSRB1 NUBP2 RPL23AP5 PRR25 SYNGR3 E4F1 MIR1225 LOC105371184 PGP RGS11 NPRL3 TPSAB1 SSTR5 HS3ST6 NTHL1 ATP6V0C ABCA17P MIR3677 TPSG1 LOC652276 CASKIN1 DDX11L10 FAM173A MAPK8IP3 WDR24 CLCN7 LOC105371038 CEMP1 RHBDF1 EME2 NARFL MRPL28 MEIOB TRAF7 GNG13 FAM234A LOC105371046 CCDC154 LMF1 TPSB2 RAB26 BAIAP3 MIR3180-5 NDUFB10 ARHGDIG CACNA1H SNORA10 LOC107984876 PKD1 LOC106660606 RPS2 UNKL TSR3 UBE2I SSTR5-AS1 RAB11FIP3 AXIN1 CHTF18 LOC100134368 NOXO1 LUC7L TELO2 MRPS34 AMDHD2 LOC105371049 RPUSD1 TMEM204 MSLN LOC105371045 PRR35 C16orf59 LOC107987233 SNORD60 SNORA64 IFT140 PDPK1 LOC101929280 DNASE1L2 METTL26 MIR3177 LINC00235 HAGH GFER ERVK13-1 DECR2 MIR3178 HBM KCTD5 MIR6767 MIR3176 PIGQ LOC100287175 HBQ1 NTN3 MLST8 SNORA78 CAPN15 LINC00254 LOC105371047 FAHD1 SNHG9 NPW WASIR2 FLJ42627 TMEM8A IGFALS ABCA3 RHOT2 CCNF ECI1 SNRNP25 METRN NHLRC4 C1QTNF8 MIR662 CRAMP1 HBA1 FBXL16 C16orf91 BRICD5 JMJD8 HAGHL TPSD1 PRSS27 PTX4 TBC1D24 MIR6859-4 RNPS1 RHBDL1 TSC2 MIR940 GNPTG
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	CEMP1 AMDHD2 SRRM2-AS1 PDPK1 TCEB2 ATP6V0C PRSS27 PRSS21 LOC652276 TBC1D24 SRRM2 FLJ42627 ERVK13-1 MIR3178 PRSS41 PRSS33 KCTD5
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	MIR6767 MIR6768 MIR3180-5 NTN3 SNHG19 MLST8 PKD1 LOC106660606 ATP6V0C ABCA17P MIR3677 LOC652276 CASKIN1 ABCA3 MIR4516 CCNF LOC729652 ECI1 MIR6511B1 MIR4717 CEMP1 AMDHD2 LOC105371049 C16orf59 BRICD5 SNORD60 PDPK1 E4F1 TBC1D24 DNASE1L2 TRAF7 RNPS1 MIR1225 TSC2 MIR3178 MIR940 PGP RAB26
nsv833121	Chr.16:2360975 - 2518228 on Build GRCh38	Loss	MIR6767 ABCA17P MIR6768 TBC1D24 NTN3 CCNF LOC729652 C16orf59 ATP6V0C

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