Hs01096136_cn

• Gene Symbol: FAHD1
• Assay Reference Genome Location: Chr.16:1828373 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 81889
• Gene Name: fumarylacetoacetate hydrolase domain containing 1
• Gene Aliases: C16orf36, YISKL
• Location: Chr.16:1827224-1840207 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAHD1	NM_001018104.2			NP_001018114.1
	NM_001142398.1			NP_001135870.1
	NM_031208.3	1	1150	NP_112485.1
	AF293367.1	1	178	AAG10069.1
	AK094199.1	1	1149	BAC04308.1
	AL136720.1	1	1150	CAB66654.1
	BC063017.1			AAH63017.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv517196	Chr.16:1729694 - 1844960 on Build GRCh38	Gain+Loss	NME3 NUBP2 MAPK8IP3 MEIOB HAGH MIR3177 IGFALS MRPS34 EME2 SPSB3 FAHD1
nsv571175	Chr.16:1806439 - 1875278 on Build GRCh38	Loss	MEIOB HAGH FAHD1
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	MEIOB HAGH FAHD1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	ERVK13-1 CLCN7 GNPTG CRAMP1 JMJD8 FAM234A BRICD5 SLC9A3R2 NME4 SPSB3 PRSS29P HBQ1 LMF1-AS1 RPS2 RHOT2 LINC00235 RGS11 LOC729652 PTX4 PRR25 TPSG1 RNPS1 MRPS34 TBL3 MRPL28 MPG ZNF598 STUB1 ARHGDIG PDPK1 LOC107987233 MIR6859-4 PRR35 CCNF LOC105371046 TRAF7 CAPN15 SNORA64 RAB26 TSR3 WDR90 SNHG19 WFIKKN1 HN1L HBM MIR5587 RAB11FIP3 RPL3L E4F1 LOC101929280 GNG13 GFER MCRIP2 FLJ42627 MSLN NUBP2 DECR2 LOC107984876 NPRL3 LOC105371184 HS3ST6 CASKIN1 RHBDF1 AXIN1 SNORD60 SSTR5-AS1 MIR6511B1 WASIR2 MIR3177 TMEM204 RNF151 METRN NME3 HAGHL POLR3K PRSS27 HBA1 SSTR5 PKD1 DNASE1L2 MIR3180-5 RHBDL1 C16orf91 PGP NDUFB10 MIR4717 TSC2 LINC00254 C1QTNF8 MIR3176 DDX11L10 UNKL LMF1 ABCA3 NHLRC4 C16orf59 MIR6767 WDR24 IFT140 CHTF18 FAHD1 CACNA1H TPSAB1 MAPK8IP3 LOC105371038 ATP6V0C SNORA10 RAB40C METTL26 PDIA2 LOC105371047 LOC100287175 LOC100134368 FAM173A BAIAP3 MIR6768 NOXO1 MIR3677 MSRB1 TPSB2 HBA2 ECI1 IGFALS CCDC78 AMDHD2 NPW TPSD1 FBXL16 LOC105371045 MIR940 HAGH CEMP1 MIR3178 MIR1225 SNHG9 LUC7L RPL23AP5 MIR662 LOC106660606 SNRNP25 SNORA78 TMEM8A NTN3 LOC652276 UBE2I TBC1D24 KCTD5 NARFL HBZ RPUSD1 ABCA17P MLST8 PIGQ SYNGR3 TELO2 NTHL1 CCDC154 MEIOB LOC105371049 EME2 MIR4516 SOX8
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	HN1L MAPK8IP3 CRAMP1 LOC105371047 HAGH MIR3177 SPSB3 TMEM204 LOC105371046 NME3 NUBP2 TELO2 MEIOB IFT140 IGFALS MRPS34 EME2 FAHD1
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	NUBP2 MEIOB HAGH IGFALS FAHD1
nsv518641	Chr.16:1645775 - 1835631 on Build GRCh38	Loss	HN1L MAPK8IP3 CRAMP1 HAGH MIR3177 SPSB3 NME3 NUBP2 MEIOB IGFALS MRPS34 EME2 FAHD1
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	MEIOB HAGH FAHD1
nsv571177	Chr.16:1817039 - 1897015 on Build GRCh38	Gain	LINC00254 MEIOB HAGH FAHD1

More Information

Additional Information:

For this assay, SNP(s) [rs79140651] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

hydrolase

Gene Ontology Categories:

Process(es)

metabolic process

Function(s)

oxaloacetate decarboxylase activity
acetylpyruvate hydrolase activity
fumarylpyruvate hydrolase activity
metal ion binding
acylpyruvate hydrolase activity