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	SPSB3 IGFALS MEIOB HAGH MRPS34 FAHD1 EME2 NME3 MAPK8IP3 NUBP2 MIR3177
dgv4857n54	Chr.16:1806439 - 1855005 on Build GRCh38	Loss	MEIOB HAGH FAHD1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	TPSAB1 ABCA17P CRAMP1 CASKIN1 LOC105371045 UBE2I AXIN1 SOX8 TBC1D24 LOC101929280 GNPTG EME2 MIR4717 CLCN7 MCRIP2 E4F1 RNPS1 HBA1 SNORA64 STUB1 KCTD5 NOXO1 PDPK1 TPSB2 IFT140 HAGHL GNG13 LUC7L NME4 NHLRC4 SNHG19 PRSS27 ERVK13-1 NTHL1 RAB26 PIGQ MSRB1 TPSG1 TMEM204 HBZ MAPK8IP3 RPS2 NUBP2 SNRNP25 SSTR5-AS1 WASIR2 C16orf91 CCDC78 LOC105371047 SNORD60 WDR24 FAM173A SSTR5 CCDC154 NARFL MIR3677 CAPN15 NPRL3 BAIAP3 MSLN AMDHD2 NDUFB10 METRN NPW CCNF HBA2 LMF1 LOC652276 GFER PRSS29P ABCA3 SNORA10 HAGH FBXL16 FAHD1 LOC107984876 TBL3 PTX4 CACNA1H RHOT2 RAB11FIP3 PKD1 TSR3 NME3 RNF151 MIR3180-5 RAB40C UNKL METTL26 MIR3176 SYNGR3 LMF1-AS1 LOC107987233 TSC2 CEMP1 TELO2 POLR3K MIR3177 FAM234A SPSB3 WFIKKN1 MIR5587 LOC105371046 MEIOB ATP6V0C BRICD5 PDIA2 NTN3 WDR90 LINC00235 HBQ1 TRAF7 LOC106660606 LOC729652 ECI1 DECR2 HS3ST6 LOC105371049 DDX11L10 PRR35 HBM MRPL28 MIR3178 CHTF18 LOC100287175 ZNF598 MIR6859-4 RPUSD1 LOC100134368 C1QTNF8 MIR6767 MLST8 SNHG9 DNASE1L2 MPG PGP LOC105371038 TPSD1 SNORA78 MIR662 TMEM8A PRR25 RHBDL1 JMJD8 FLJ42627 RPL23AP5 MRPS34 RHBDF1 ARHGDIG RGS11 LINC00254 RPL3L IGFALS MIR4516 SLC9A3R2 MIR940 LOC105371184 C16orf59 MIR1225 MIR6768 MIR6511B1 HN1L
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	MEIOB HAGH FAHD1
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	SPSB3 CRAMP1 LOC105371046 MEIOB TMEM204 MRPS34 NME3 MAPK8IP3 NUBP2 IFT140 IGFALS LOC105371047 HAGH FAHD1 EME2 TELO2 MIR3177 HN1L
nsv518641	Chr.16:1645775 - 1835631 on Build GRCh38	Loss	SPSB3 CRAMP1 MEIOB MRPS34 NME3 MAPK8IP3 NUBP2 IGFALS HAGH FAHD1 EME2 MIR3177 HN1L
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	IGFALS MEIOB HAGH FAHD1 NUBP2
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	MEIOB HAGH FAHD1
dgv335n27	Chr.16:1817039 - 1897015 on Build GRCh38	Gain	MEIOB HAGH FAHD1 LINC00254

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