Hs03919183_cn

• Gene Symbol: RAB11FIP3
• Assay Reference Genome Location: Chr.16:427145 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 9727
• Gene Name: RAB11 family interacting protein 3
• Gene Aliases: CART1, Rab11-FIP3
• Location: Chr.16:425621-522485 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAB11FIP3	NM_014700.3			NP_055515.1
	XM_005255713.3			XP_005255770.1
	XM_005255717.3			XP_005255774.1
	XM_005255718.3			XP_005255775.1
	XM_017023907.1			XP_016879396.1
	AB014565.1
	AF395731.1			AAL12940.1
	BC051360.1			AAH51360.1

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	LOC105371046 CLCN7 MIR6767 HBM LOC105371045 ZNF598 PRR35 SNHG19 EME2 IFT140 MIR3677 MRPS34 METTL26 POLR3K NPW NDUFB10 RNF151 CAPN15 HBZ LUC7L NPRL3 MIR5587 WFIKKN1 CCNF DECR2 LOC107984876 RAB11FIP3 FLJ42627 TRAF7 SNORA78 TELO2 MIR6859-4 GNPTG LMF1 LMF1-AS1 MLST8 SNORA64 MAPK8IP3 SNRNP25 RHOT2 RNPS1 UNKL ABCA3 HN1L PGP PIGQ RGS11 HAGHL GNG13 MIR1225 FAM234A SLC9A3R2 NARFL FAHD1 DDX11L10 RHBDL1 HBA1 CACNA1H NME3 SNORD60 TBC1D24 NUBP2 LOC101929280 CCDC78 KCTD5 RAB40C LOC106660606 TMEM8A AXIN1 SOX8 SSTR5-AS1 MIR3177 WDR90 SNHG9 TPSB2 NTHL1 C16orf91 NME4 CCDC154 LINC00254 TPSD1 ECI1 PRSS27 LOC107987233 NHLRC4 RPL3L HAGH LOC729652 MIR6511B1 LINC00235 RHBDF1 JMJD8 TPSAB1 PKD1 TPSG1 MEIOB HBA2 MIR662 UBE2I HBQ1 LOC105371184 STUB1 E4F1 PRR25 MCRIP2 MIR6768 RPL23AP5 CRAMP1 HS3ST6 GFER MIR3180-5 MSLN TBL3 LOC105371047 TSR3 FAM173A ABCA17P C16orf59 WASIR2 PDPK1 MIR940 MIR3178 TSC2 LOC100134368 LOC100287175 METRN BRICD5 RPS2 NTN3 C1QTNF8 AMDHD2 BAIAP3 CASKIN1 MIR4516 MIR4717 MPG SYNGR3 CHTF18 MRPL28 LOC652276 ARHGDIG SPSB3 RAB26 LOC105371038 TMEM204 RPUSD1 SSTR5 CEMP1 MSRB1 ERVK13-1 IGFALS LOC105371049 PDIA2 WDR24 NOXO1 ATP6V0C MIR3176 FBXL16 PRSS29P SNORA10 PTX4 DNASE1L2
dgv4810n54	Chr.16:380011 - 445662 on Build GRCh38	Loss	RPL23AP5 LOC100134368 RAB11FIP3 TMEM8A NME4 DECR2
esv3637563	Chr.16:263248 - 505590 on Build GRCh38	Gain	RPL23AP5 LOC100134368 FAM234A PDIA2 RAB11FIP3 TMEM8A RGS11 AXIN1 MRPL28 NME4 ARHGDIG DECR2
nsv570956	Chr.16:376432 - 437728 on Build GRCh38	Gain	RPL23AP5 LOC100134368 RAB11FIP3 TMEM8A NME4 DECR2
nsv570954	Chr.16:342461 - 530124 on Build GRCh38	Loss	RPL23AP5 LOC100134368 CAPN15 RAB11FIP3 TMEM8A AXIN1 MRPL28 NME4 DECR2 LINC00235
nsv457303	Chr.16:383623 - 445662 on Build GRCh38	Loss	RPL23AP5 LOC100134368 RAB11FIP3 NME4 DECR2
dgv4809n54	Chr.16:322597 - 451362 on Build GRCh38	Loss	RPL23AP5 LOC100134368 RAB11FIP3 TMEM8A AXIN1 MRPL28 NME4 DECR2
dgv32n68	Chr.16:245507 - 476226 on Build GRCh38	Loss	RPL23AP5 LOC100134368 FAM234A PDIA2 RAB11FIP3 TMEM8A RGS11 AXIN1 MRPL28 NME4 ARHGDIG DECR2

More Information

Additional Information:

For this assay, SNP(s) [rs117291741] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

cytokinesis
vesicle-mediated transport
endocytic recycling
protein localization to cilium
negative regulation of adiponectin secretion

Function(s)

calcium ion binding
protein binding
Rab GTPase binding
ADP-ribosylation factor binding
protein homodimerization activity
dynein light intermediate chain binding