Hs01052289_cn

• Gene Symbol: FAHD1
• Assay Reference Genome Location: Chr.16:1839530 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	1030	NP_001018114.1
	NM_001142398.1	2	911	NP_001135870.1
	BC063017.1	2	915	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	MRPS34 FAHD1 NME3 SPSB3 MEIOB NUBP2 IGFALS EME2 MIR3177 HAGH MAPK8IP3
dgv4857n54	Chr.16:1806439 - 1855005 on Build GRCh38	Loss	FAHD1 MEIOB HAGH
nsv833119	Chr.16:1834308 - 1911484 on Build GRCh38	Loss	FAHD1 LINC00254 HS3ST6 MEIOB
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	LOC729652 BAIAP3 PIGQ CEMP1 MIR3176 LINC00254 LOC105371047 TPSD1 ATP6V0C CCDC154 MIR3178 HBQ1 C16orf91 CACNA1H TELO2 DECR2 PTX4 PDPK1 TSR3 MIR6511B1 NDUFB10 SOX8 RHBDL1 SNRNP25 NTN3 MRPL28 MIR4717 IGFALS POLR3K AXIN1 ABCA17P SNHG19 RNPS1 TBC1D24 FAHD1 NPW CRAMP1 PGP CASKIN1 LOC105371045 NTHL1 BRICD5 E4F1 LOC107987233 MAPK8IP3 MIR3180-5 NME3 TMEM8A C16orf59 TBL3 CHTF18 RPL3L TPSAB1 DDX11L10 LINC00235 GNPTG MIR3177 LOC100134368 MIR5587 NARFL HN1L PRR25 ABCA3 RHOT2 RAB26 PDIA2 PRSS27 EME2 LOC105371046 HS3ST6 MIR1225 TPSG1 C1QTNF8 MLST8 LOC107984876 RPS2 SNORA78 RHBDF1 SSTR5 LOC105371038 PRSS29P NOXO1 GFER CAPN15 METTL26 CCNF TMEM204 UBE2I LMF1 MIR6768 NME4 SYNGR3 HBA1 DNASE1L2 SLC9A3R2 NUBP2 TPSB2 UNKL RPUSD1 LOC105371049 PKD1 NPRL3 SNORA64 WDR90 SNHG9 MSRB1 MCRIP2 ECI1 MIR6859-4 WFIKKN1 METRN MIR3677 HBZ AMDHD2 FAM234A FBXL16 RPL23AP5 RGS11 KCTD5 LOC100287175 RNF151 ERVK13-1 SPSB3 MEIOB JMJD8 WASIR2 PRR35 RAB40C MIR662 FLJ42627 MIR4516 LOC101929280 FAM173A ZNF598 NHLRC4 CLCN7 MSLN LUC7L MRPS34 HBA2 TRAF7 LOC652276 MIR940 LOC105371184 HAGHL LOC106660606 TSC2 HBM GNG13 SNORD60 IFT140 ARHGDIG MIR6767 WDR24 SNORA10 CCDC78 SSTR5-AS1 HAGH STUB1 MPG RAB11FIP3 LMF1-AS1
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	FAHD1 MEIOB HAGH
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	MRPS34 NME3 SPSB3 LOC105371047 MEIOB IGFALS MIR3177 HN1L FAHD1 TELO2 CRAMP1 IFT140 NUBP2 EME2 HAGH LOC105371046 MAPK8IP3 TMEM204
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	FAHD1 MEIOB NUBP2 IGFALS HAGH
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	FAHD1 MEIOB HAGH
dgv335n27	Chr.16:1817039 - 1897015 on Build GRCh38	Gain	FAHD1 LINC00254 MEIOB HAGH

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