Hs03346875_cn

• Gene Symbol: FAAP20
• Assay Reference Genome Location: Chr.1:2197175 on build GRCh38
• Cytoband: 1p36.33

Target Gene Details

• Entrez Gene ID: 199990
• Gene Name: Fanconi anemia core complex associated protein 20
• Gene Aliases: C1orf86, FP7162
• Location: Chr.1:2184460-2212720 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAAP20	NM_001146310.1			NP_001139782.1
	NM_001282670.1			NP_001269599.1
	XM_006710419.3			XP_006710482.1
	XM_011540914.2			XP_011539216.1
	XM_011540921.2			XP_011539223.1
	XM_017000553.1			XP_016856042.1
	AF461903.1			AAQ04817.1
	AK126870.1			BAC86730.1
	AK127994.1			BAC87220.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv461727	Chr.1:2151050 - 2251031 on Build GRCh38	Loss	LOC100506504 FAAP20 SKI LOC105378592 PRKCZ
nsv482937	Chr.1:10001 - 2368561 on Build GRCh38	Loss	OR4F29 ANKRD65 TTLL10 LOC284600 CCNL2 FAM87B LOC100506504 ATAD3C LOC101928626 LOC100133331 MIR6859-1 LOC100288175 AURKAIP1 FNDC10 MIR429 TMEM52 FAM41C MIR6723 GABRD LOC729737 FAAP20 LINC01342 LOC100129534 DVL1 MIR6859-2 PUSL1 OR4F16 CALML6 SLC35E2B LOC100134822 NOC2L SKI SCNN1D MIR6727 TNFRSF18 SSU72 VWA1 MORN1 TNFRSF4 CDK11B MRPL20 MIR1302-2 MIB2 UBE2J2 MIR200B DDX11L1 MTND2P28 HES4 CPTP RNF223 ISG15 OR4F5 LOC105378589 GNB1 MIR6726 MMP23A PERM1 MIR200A LOC105378591 PRKCZ LOC105378947 FAM138A LINC01128 MMP23B B3GALT6 LOC105378948 LOC100287934 TAS1R3 LOC105378949 LOC102724312 AGRN LOC105378592 LOC107984841 SLC35E2 LOC102725121 LOC107985728 TTLL10-AS1 SAMD11 NADK ATAD3A MTND1P23 TMEM88B ATAD3B FAM132A PLEKHN1 LINC00115 LOC100132287 SDF4 CPSF3L LOC100288069 WASH7P LOC148413 ACAP3 MIR6808 CDK11A MXRA8 TMEM240 KLHL17 LOC100130417 CFAP74 LOC107985729 C1orf159
nsv951530	Chr.1:2153662 - 2229961 on Build GRCh38	Deletion	LOC100506504 FAAP20 SKI LOC105378592 PRKCZ
nsv470682	Chr.1:2188394 - 2378754 on Build GRCh38	Loss	FAAP20 MORN1 SKI LOC105378592 LOC100129534
nsv834557	Chr.1:2117631 - 2311104 on Build GRCh38	Loss	LOC100506504 FAAP20 SKI LOC105378592 PRKCZ

More Information

Additional Information:

For this assay, SNP(s) [rs142571156] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cellular response to DNA damage stimulus
translesion synthesis
interstrand cross-link repair

Function(s)

protein binding
polyubiquitin binding
ubiquitin binding
metal ion binding
K63-linked polyubiquitin binding