Hs02856246_cn

• Gene Symbol: FAHD1
• Assay Reference Genome Location: Chr.16:1839997 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAHD1	NM_001018104.2	3	1497	NP_001018114.1
	NM_001142398.1	2	1378	NP_001135870.1
	BC063017.1	2	1382	AAH63017.1

Target Gene Details

• Entrez Gene ID: 254528
• Gene Name: meiosis specific with OB domains
• Gene Aliases: C16orf73, gs129
• Location: Chr.16:1833983-1872178 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MEIOB	NM_001163560.2			NP_001157032.1
	NM_152764.2			NP_689977.2
	BC029829.1			AAH29829.1

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	MIR3177 HAGH MEIOB IGFALS NME3 MAPK8IP3 MRPS34 NUBP2 SPSB3 FAHD1 EME2
dgv4857n54	Chr.16:1806439 - 1855005 on Build GRCh38	Loss	HAGH MEIOB FAHD1
nsv833119	Chr.16:1834308 - 1911484 on Build GRCh38	Loss	MEIOB LINC00254 HS3ST6 FAHD1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	AXIN1 NHLRC4 MIR940 LMF1 NUBP2 LOC105371045 SNRNP25 RNPS1 RAB40C HS3ST6 FAHD1 MEIOB SNORA10 IGFALS POLR3K MAPK8IP3 SSTR5-AS1 HBA2 RPUSD1 TMEM204 UNKL MIR662 HBA1 RNF151 RPL23AP5 RAB11FIP3 PRR25 SNORA78 GNPTG C16orf91 NME4 MSRB1 LINC00235 WFIKKN1 LOC652276 HAGHL IFT140 FAM234A SNHG19 TBC1D24 HAGH NME3 ECI1 NPW DECR2 SPSB3 LOC100287175 NTHL1 NARFL EME2 UBE2I C16orf59 ERVK13-1 PRR35 MIR3677 CCNF CLCN7 CRAMP1 RGS11 METRN MIR6768 CASKIN1 TSR3 ZNF598 HN1L LINC00254 MLST8 HBQ1 MSLN TPSG1 LOC105371046 SYNGR3 MCRIP2 RPS2 PGP SNHG9 E4F1 LOC100134368 LUC7L PKD1 MPG BRICD5 PIGQ PDPK1 RHBDF1 SOX8 METTL26 LOC729652 STUB1 CACNA1H TPSB2 MIR6767 ARHGDIG MRPS34 NDUFB10 LOC105371184 BAIAP3 MIR1225 LOC107987233 LOC105371049 SSTR5 ABCA17P LOC106660606 TPSAB1 LOC101929280 LOC105371038 TMEM8A MIR5587 GFER DNASE1L2 HBM WDR90 MIR3178 FLJ42627 MIR4516 MIR6511B1 PRSS27 CCDC154 WASIR2 NOXO1 RAB26 SNORA64 TBL3 TRAF7 CCDC78 DDX11L10 MIR3180-5 JMJD8 LOC105371047 NTN3 TELO2 MIR6859-4 TPSD1 AMDHD2 LOC107984876 SLC9A3R2 PDIA2 MIR4717 CEMP1 NPRL3 MIR3177 WDR24 RPL3L SNORD60 ATP6V0C ABCA3 TSC2 CHTF18 CAPN15 HBZ MIR3176 MRPL28 LMF1-AS1 FBXL16 PTX4 PRSS29P RHOT2 GNG13 RHBDL1 KCTD5 FAM173A C1QTNF8
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	HAGH MEIOB FAHD1
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	HAGH TMEM204 TELO2 NME3 HN1L NUBP2 SPSB3 FAHD1 EME2 MIR3177 LOC105371046 MEIOB IGFALS MAPK8IP3 MRPS34 CRAMP1 IFT140 LOC105371047
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	HAGH MEIOB IGFALS NUBP2 FAHD1
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	HAGH MEIOB FAHD1
dgv335n27	Chr.16:1817039 - 1897015 on Build GRCh38	Gain	HAGH MEIOB LINC00254 FAHD1

More Information

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

Panther Classification:

Molecular Function -

hydrolase

Gene Ontology Categories:

Process(es)

metabolic process
resolution of meiotic recombination intermediates
double-strand break repair via homologous recombination
synapsis
male meiosis
male meiosis I
female meiosis I
fertilization
nucleic acid phosphodiester bond hydrolysis

Function(s)

oxaloacetate decarboxylase activity
acetylpyruvate hydrolase activity
fumarylpyruvate hydrolase activity
metal ion binding
acylpyruvate hydrolase activity
chromatin binding
single-stranded DNA binding
single-stranded DNA 3'-5' exodeoxyribonuclease activity