Hs00208535_cn

• Gene Symbol: FAAP20
• Assay Reference Genome Location: Chr.1:2187030 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 Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAAP20	NM_001146310.1			NP_001139782.1
	NM_001256945.1			NP_001243874.1
	NM_001282671.1	6	873	NP_001269600.1
	NM_001282672.1	5	742	NP_001269601.1
	NM_001282673.1			NP_001269602.1
	XM_017000554.1			XP_016856043.1
	XM_017000555.1	1	321	XP_016856044.1
	XM_017000556.1	1	321	XP_016856045.1
	AF469129.1	6	839	AAP97719.1
	AK055593.1	5	742	BAB70965.1
	AK127994.1			BAC87220.1
	BC103992.2			AAI03993.1
	BG825658.1
	BU192678.1
	DA596011.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs116710939] 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, 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