Hs00372745_cn

• Gene Symbol: RHBDF1
• Assay Reference Genome Location: Chr.16:59437 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 64285
• Gene Name: rhomboid 5 homolog 1
• Gene Aliases: C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1
• Location: Chr.16:58059-76355 on Build GRCh38
• Assay Gene Location: Overlaps Intron 15 - Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RHBDF1	NM_022450.3			NP_071895.3
	XM_005255494.1			XP_005255551.1
	XM_005255498.2			XP_005255555.1
	XM_006720921.1			XP_006720984.1
	XM_017023556.1			XP_016879045.1
	XM_017023557.1			XP_016879046.1
	AK026010.1			BAB15318.1
	AK056708.1
	AK225408.1
	AK291177.1
	BC014425.1			AAH14425.1
	M99624.1			AAA02490.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518291	Chr.16:47354 - 254515 on Build GRCh38	Loss	FAM234A HBM HBA2 NPRL3 HBZ MPG POLR3K HBA1 LUC7L SNRNP25 HBQ1 RHBDF1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	CAPN15 MIR6859-4 RAB26 MRPS34 SSTR5-AS1 ABCA3 LUC7L UNKL E4F1 LOC100287175 ZNF598 CEMP1 IGFALS CCDC154 RPUSD1 HS3ST6 HBA1 NME4 LOC107984876 PDPK1 HBQ1 PRSS27 NTHL1 BRICD5 BAIAP3 MIR5587 MLST8 TPSB2 HN1L PRSS29P SNORA64 LOC106660606 GFER HBM ERVK13-1 TPSAB1 MIR6768 TSR3 LINC00254 SNHG9 CCNF TELO2 PGP TPSD1 MSRB1 TBC1D24 FAHD1 FLJ42627 MIR4717 DNASE1L2 HBZ SSTR5 RNPS1 RPL23AP5 RAB11FIP3 SPSB3 CCDC78 PDIA2 CLCN7 CACNA1H NPRL3 NDUFB10 PRR35 POLR3K GNPTG MEIOB METRN TMEM204 ATP6V0C PIGQ UBE2I FAM234A SNORA78 MIR3176 NTN3 SNORA10 HAGHL RGS11 LOC105371045 MIR3177 WDR24 RHBDL1 LMF1 MIR3677 LOC101929280 LOC105371046 C16orf59 WASIR2 STUB1 EME2 MSLN LOC652276 LOC105371047 HAGH NUBP2 SNORD60 NME3 IFT140 NOXO1 PTX4 SNRNP25 ECI1 MCRIP2 JMJD8 RHOT2 LMF1-AS1 TPSG1 DDX11L10 MPG PKD1 GNG13 CHTF18 TRAF7 LOC100134368 METTL26 CRAMP1 MIR940 NARFL ABCA17P MIR6511B1 MIR3178 PRR25 RHBDF1 FBXL16 TSC2 RAB40C C1QTNF8 AMDHD2 MIR3180-5 RPS2 MRPL28 DECR2 AXIN1 LOC107987233 HBA2 SYNGR3 RNF151 LOC105371049 SOX8 TMEM8A WDR90 NPW MIR6767 LINC00235 FAM173A RPL3L MAPK8IP3 C16orf91 MIR4516 SLC9A3R2 ARHGDIG LOC105371184 TBL3 MIR662 SNHG19 CASKIN1 WFIKKN1 MIR1225 LOC105371038 KCTD5 LOC729652 NHLRC4
nsv1044732	Chr.16:35815 - 60707 on Build GRCh38	Loss	POLR3K SNRNP25 RHBDF1
dgv2688n100	Chr.16:10765 - 80854 on Build GRCh38	Gain	MIR6859-4 DDX11L10 MPG POLR3K WASIR2 SNRNP25 RHBDF1
esv988339	Chr.16:56481 - 68287 on Build GRCh38	Deletion	SNRNP25 RHBDF1
esv2760065	Chr.16:31052 - 143601 on Build GRCh38	Gain	NPRL3 HBZ MPG POLR3K SNRNP25 RHBDF1

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

cell proliferation
protein transport
cell migration
protein processing
regulation of epidermal growth factor receptor signaling pathway
regulation of protein secretion
negative regulation of protein secretion
regulation of proteasomal protein catabolic process

Function(s)

serine-type endopeptidase activity
growth factor binding