FAAP100

FA core complex associated protein 100

Basic information

Region (hg38): 17:81539885-81553961

Previous symbols: [ "C17orf70" ]

Links

ENSG00000185504 ∙ NCBI:80233 ∙ OMIM:611301 ∙ HGNC:26171 ∙ Uniprot:Q0VG06 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAAP100 gene.

• not_specified (142 variants)
• FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_X (3 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAAP100 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025161.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense	1		132	11		144
nonsense	1					1
start loss						0
frameshift	1					1
splice donor/acceptor (+/-2bp)						0
Total	3	0	132	11	0

Highest pathogenic variant AF is 0.0000014113231

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAAP100	protein_coding	protein_coding	ENST00000327787	9	14077

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000270	0.997	125663	0	31	125694	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.693	472	516	0.914	0.0000326	5528
Missense in Polyphen		120	154.48	0.7768		1843
Synonymous	-2.51	294	244	1.20	0.0000169	1979
Loss of Function	2.59	12	26.3	0.456	0.00000146	293

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000457	0.000392
Ashkenazi Jewish	0.000209	0.000199
East Asian	0.0000544	0.0000544
Finnish	0.0000928	0.0000924
European (Non-Finnish)	0.0000809	0.0000792
Middle Eastern	0.0000544	0.0000544
South Asian	0.000233	0.000229
Other	0.000187	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. {ECO:0000269|PubMed:17396147}.
• Pathway: Fanconi anemia pathway - Homo sapiens (human);Fanconi Anemia Pathway;DNA Repair;Fanconi anemia pathway (Consensus)

Recessive Scores

• pRec: 0.160

Intolerance Scores

• rvis_EVS: 0.36
• rvis_percentile_EVS: 74.71

Haploinsufficiency Scores

• pHI: 0.147
• hipred: Y
• hipred_score: 0.630
• ghis: 0.537

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Faap100

Gene ontology

• Biological process: interstrand cross-link repair
• Cellular component: nucleoplasm;cytosol;Fanconi anaemia nuclear complex;intermediate filament cytoskeleton
• Molecular function: DNA binding;protein binding