Hs02585792_cn

• Gene Symbol: FAHD1
• Assay Reference Genome Location: Chr.16:1840107 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	1607	NP_001018114.1
	NM_001142398.1	2	1488	NP_001135870.1
	BC063017.1	2	1492	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	NUBP2 FAHD1 EME2 MIR3177 SPSB3 MRPS34 HAGH MEIOB IGFALS MAPK8IP3 NME3
dgv4857n54	Chr.16:1806439 - 1855005 on Build GRCh38	Loss	FAHD1 HAGH MEIOB
nsv833119	Chr.16:1834308 - 1911484 on Build GRCh38	Loss	FAHD1 MEIOB HS3ST6 LINC00254
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	TSR3 E4F1 TELO2 WDR90 HAGH TSC2 FAM173A LOC729652 TPSD1 HBZ PRSS27 MEIOB LOC105371045 C16orf59 HBQ1 NUBP2 MIR662 LOC105371038 LOC107987233 MIR3176 RAB11FIP3 HBA2 MAPK8IP3 MSRB1 PRSS29P LOC107984876 RPS2 TMEM204 LOC105371184 GFER DDX11L10 SNORA10 ARHGDIG DNASE1L2 JMJD8 C1QTNF8 HN1L SSTR5-AS1 MIR940 DECR2 CCNF SLC9A3R2 NHLRC4 CRAMP1 LOC105371047 HBA1 NARFL CAPN15 SPSB3 LINC00235 MIR4516 LUC7L CCDC154 SSTR5 LMF1-AS1 SNORD60 ABCA17P EME2 SNORA64 GNPTG SNORA78 MIR3177 RNF151 LOC100134368 LOC100287175 RHBDL1 BRICD5 KCTD5 RAB40C SNHG19 ERVK13-1 METTL26 MIR4717 PRR35 TBL3 RPL3L PDPK1 NDUFB10 IFT140 FBXL16 RHBDF1 UNKL MCRIP2 LOC105371049 NPW UBE2I AXIN1 HBM POLR3K MIR6511B1 SNHG9 NPRL3 CACNA1H SOX8 WDR24 MPG RPL23AP5 MIR3180-5 SYNGR3 TRAF7 MIR5587 CLCN7 PTX4 CEMP1 RPUSD1 NTHL1 MIR6768 TPSB2 NME3 FLJ42627 NOXO1 RNPS1 CASKIN1 C16orf91 PKD1 ATP6V0C MRPL28 FAHD1 METRN TPSAB1 PDIA2 MIR1225 TBC1D24 RHOT2 IGFALS LOC101929280 ECI1 ZNF598 CCDC78 LOC106660606 AMDHD2 FAM234A CHTF18 HS3ST6 PRR25 MIR3677 MIR6767 HAGHL STUB1 RGS11 MSLN LINC00254 MIR3178 TMEM8A SNRNP25 LOC105371046 RAB26 ABCA3 GNG13 MIR6859-4 LMF1 MLST8 NME4 PGP WFIKKN1 BAIAP3 TPSG1 MRPS34 WASIR2 PIGQ NTN3 LOC652276
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	FAHD1 HAGH MEIOB
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	NUBP2 EME2 LOC105371046 MIR3177 TELO2 HN1L HAGH MAPK8IP3 CRAMP1 FAHD1 LOC105371047 IFT140 SPSB3 MRPS34 TMEM204 MEIOB IGFALS NME3
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	NUBP2 FAHD1 HAGH MEIOB IGFALS
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	FAHD1 HAGH MEIOB
dgv335n27	Chr.16:1817039 - 1897015 on Build GRCh38	Gain	FAHD1 HAGH MEIOB LINC00254

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