Hs00281587_cn

• Gene Symbol: FAHD1
• Assay Reference Genome Location: Chr.16:1839767 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	1267	NP_001018114.1
	NM_001142398.1	2	1148	NP_001135870.1
	BC063017.1	2	1152	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	EME2 HAGH SPSB3 MAPK8IP3 IGFALS NME3 MIR3177 MRPS34 NUBP2 MEIOB FAHD1
dgv4857n54	Chr.16:1806439 - 1855005 on Build GRCh38	Loss	HAGH MEIOB FAHD1
nsv833119	Chr.16:1834308 - 1911484 on Build GRCh38	Loss	LINC00254 HS3ST6 MEIOB FAHD1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	LOC105371184 SOX8 CASKIN1 LOC105371046 ABCA3 IGFALS LMF1 SSTR5-AS1 RHBDL1 NPRL3 FAHD1 WASIR2 NARFL PRSS29P NHLRC4 HAGHL HBZ TPSD1 ATP6V0C LOC105371045 TBC1D24 RNF151 DECR2 MLST8 RAB40C MIR3177 MCRIP2 WDR90 LOC729652 CCNF HBM ECI1 MAPK8IP3 TPSG1 CAPN15 RPL3L MSLN STUB1 MIR3176 MSRB1 NUBP2 GNPTG LOC101929280 TMEM204 SNORD60 HBA2 IFT140 PIGQ TELO2 JMJD8 PRR35 RPL23AP5 MRPL28 MIR4516 HN1L WFIKKN1 GFER SLC9A3R2 PRR25 LOC100287175 ARHGDIG DNASE1L2 POLR3K CEMP1 E4F1 SNORA10 MPG C1QTNF8 PDIA2 TBL3 SNRNP25 TPSAB1 LOC107984876 LOC107987233 BAIAP3 EME2 TMEM8A LINC00235 LOC105371038 ABCA17P RGS11 CRAMP1 MIR3677 WDR24 PRSS27 RAB26 FAM234A ZNF598 MIR940 KCTD5 GNG13 LMF1-AS1 C16orf59 TRAF7 DDX11L10 FAM173A CHTF18 CCDC78 MIR6768 SPSB3 MIR4717 SSTR5 RPUSD1 MIR6511B1 PDPK1 CACNA1H RHBDF1 LINC00254 AMDHD2 NPW NME3 NOXO1 FLJ42627 BRICD5 TPSB2 MIR6767 TSC2 RAB11FIP3 SNORA78 HBQ1 AXIN1 MIR662 SNHG9 CCDC154 UBE2I HBA1 RPS2 MIR1225 ERVK13-1 RNPS1 MIR3180-5 MIR5587 NTN3 SNHG19 NTHL1 METRN MIR3178 HAGH LOC105371049 MIR6859-4 UNKL TSR3 LOC652276 LUC7L FBXL16 HS3ST6 SYNGR3 LOC106660606 PKD1 METTL26 LOC105371047 LOC100134368 PTX4 PGP NDUFB10 MRPS34 RHOT2 SNORA64 C16orf91 MEIOB CLCN7 NME4
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	HAGH MEIOB FAHD1
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	LOC105371046 IFT140 TELO2 IGFALS NME3 MIR3177 FAHD1 LOC105371047 HN1L EME2 HAGH SPSB3 MAPK8IP3 CRAMP1 MRPS34 NUBP2 MEIOB TMEM204
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	HAGH IGFALS NUBP2 MEIOB FAHD1
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	HAGH MEIOB FAHD1
dgv335n27	Chr.16:1817039 - 1897015 on Build GRCh38	Gain	HAGH LINC00254 MEIOB 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