Hs01102873_cn

• Gene Symbol: FAHD1
• Assay Reference Genome Location: Chr.16:1839881 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	1381	NP_001018114.1
	NM_001142398.1	2	1262	NP_001135870.1
	BC063017.1	2	1266	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	NME3 MEIOB EME2 IGFALS MIR3177 MRPS34 NUBP2 FAHD1 SPSB3 HAGH MAPK8IP3
dgv4857n54	Chr.16:1806439 - 1855005 on Build GRCh38	Loss	MEIOB FAHD1 HAGH
nsv833119	Chr.16:1834308 - 1911484 on Build GRCh38	Loss	MEIOB LINC00254 HS3ST6 FAHD1
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	TPSD1 GNPTG C16orf59 LUC7L NTHL1 NUBP2 METRN FLJ42627 SNORA78 ERVK13-1 PGP PDIA2 TSC2 DNASE1L2 BAIAP3 SNHG9 SNHG19 LINC00235 MIR940 KCTD5 HBM MSLN MCRIP2 LOC105371038 MIR662 CCNF E4F1 MIR4516 WDR24 TSR3 C16orf91 WDR90 MLST8 MSRB1 LOC107987233 NOXO1 MIR3176 MAPK8IP3 LOC107984876 PRR25 RPUSD1 NME3 CHTF18 WASIR2 LMF1 LOC100134368 MRPS34 HBA2 FBXL16 RPL23AP5 ARHGDIG MRPL28 RAB40C MIR6767 HAGH BRICD5 MIR4717 AMDHD2 NPRL3 RHOT2 DDX11L10 MIR5587 ZNF598 HBZ CLCN7 HAGHL RHBDF1 LOC105371047 SNRNP25 RNPS1 LOC105371184 TRAF7 SSTR5-AS1 LOC100287175 UNKL GFER PTX4 LOC105371046 JMJD8 NHLRC4 IGFALS SOX8 PRSS27 MIR3177 SNORA64 HS3ST6 HBA1 MIR3677 CACNA1H TMEM204 CCDC78 MIR1225 MPG SYNGR3 HN1L LOC105371049 TPSG1 NPW TELO2 LOC106660606 NDUFB10 PKD1 DECR2 EME2 HBQ1 PIGQ MIR6859-4 RAB11FIP3 RNF151 SPSB3 SSTR5 CCDC154 MIR3180-5 TPSAB1 LOC101929280 IFT140 UBE2I NARFL FAHD1 PRR35 LOC652276 PDPK1 SNORA10 ECI1 CEMP1 RHBDL1 TPSB2 MIR6511B1 CAPN15 WFIKKN1 PRSS29P ATP6V0C C1QTNF8 SNORD60 GNG13 CRAMP1 LMF1-AS1 MIR6768 SLC9A3R2 LOC729652 RPL3L RPS2 TBL3 RGS11 NTN3 AXIN1 ABCA17P MEIOB NME4 FAM173A TMEM8A ABCA3 CASKIN1 RAB26 LOC105371045 STUB1 POLR3K LINC00254 MIR3178 METTL26 TBC1D24 FAM234A
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	MEIOB FAHD1 HAGH
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	NME3 MEIOB EME2 IGFALS MIR3177 MRPS34 NUBP2 SPSB3 HAGH TMEM204 LOC105371047 CRAMP1 HN1L IFT140 FAHD1 TELO2 LOC105371046 MAPK8IP3
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	MEIOB IGFALS NUBP2 FAHD1 HAGH
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	MEIOB FAHD1 HAGH
dgv335n27	Chr.16:1817039 - 1897015 on Build GRCh38	Gain	MEIOB LINC00254 FAHD1 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