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	MEIOB FAHD1 EME2 MRPS34 MAPK8IP3 IGFALS NUBP2 NME3 MIR3177 HAGH SPSB3
nsv833119	Chr.16:1834308 - 1911484 on Build GRCh38	Loss	HS3ST6 MEIOB FAHD1 LINC00254
nsv571175	Chr.16:1806439 - 1875278 on Build GRCh38	Loss	MEIOB FAHD1 HAGH
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	MEIOB FAHD1 HAGH
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	SNORA10 PTX4 TPSG1 SNORA78 LINC00235 ARHGDIG LOC105371049 TPSB2 TSR3 WASIR2 CCDC154 KCTD5 SPSB3 FAHD1 ABCA3 TBL3 MIR3177 HBA2 LOC100287175 ERVK13-1 WFIKKN1 LMF1 JMJD8 FBXL16 NDUFB10 E4F1 MIR940 LOC105371045 NOXO1 MIR6768 LOC106660606 SNRNP25 NARFL HBA1 HBM HS3ST6 C16orf59 AMDHD2 PKD1 NUBP2 MIR3176 MSLN MCRIP2 METRN MIR4717 MSRB1 RAB26 MIR6767 UBE2I TELO2 AXIN1 MEIOB CLCN7 RNPS1 LOC107984876 MIR6511B1 PRR35 CACNA1H LMF1-AS1 TSC2 TPSAB1 SNHG9 GNG13 MIR3677 MIR3180-5 PRSS29P SSTR5-AS1 RAB40C CEMP1 CRAMP1 STUB1 LOC652276 TMEM8A PRSS27 MRPS34 MIR662 ATP6V0C RGS11 HN1L RAB11FIP3 TRAF7 MIR5587 SNHG19 MRPL28 WDR24 LUC7L LOC105371047 LOC100134368 LOC729652 HBQ1 NTN3 MPG LINC00254 LOC105371038 NHLRC4 SNORA64 DDX11L10 PDPK1 ZNF598 SOX8 RPL23AP5 CCDC78 CHTF18 MLST8 SLC9A3R2 RPS2 MIR6859-4 CASKIN1 DECR2 SNORD60 LOC107987233 LOC101929280 GNPTG LOC105371184 METTL26 HAGHL FAM234A TPSD1 RPUSD1 MIR3178 MAPK8IP3 IGFALS ECI1 RNF151 TMEM204 LOC105371046 POLR3K EME2 SYNGR3 NME4 FLJ42627 PIGQ PRR25 CCNF MIR1225 ABCA17P WDR90 RPL3L HAGH C1QTNF8 SSTR5 RHOT2 BRICD5 DNASE1L2 NPW NME3 GFER IFT140 PGP MIR4516 RHBDF1 PDIA2 BAIAP3 HBZ UNKL NPRL3 NTHL1 RHBDL1 CAPN15 FAM173A TBC1D24 C16orf91
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	EME2 LOC105371047 TELO2 NME3 CRAMP1 IFT140 SPSB3 MEIOB FAHD1 MRPS34 MAPK8IP3 IGFALS NUBP2 MIR3177 HAGH HN1L TMEM204 LOC105371046
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	MEIOB FAHD1 IGFALS NUBP2 HAGH
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	MEIOB FAHD1 HAGH
nsv571177	Chr.16:1817039 - 1897015 on Build GRCh38	Gain	MEIOB FAHD1 HAGH 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