FAAP100 (FA core complex associated protein 100)

2008-07-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
C17orf70
FUSION GENES

Other Information

Locus ID:

NCBI: 80233
MIM: 611301
HGNC: 26171
Ensembl: ENSG00000185504

Variants:

dbSNP: 80233
ClinVar: 80233
TCGA: ENSG00000185504
COSMIC: FAAP100

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185504ENST00000327787Q0VG06
ENSG00000185504ENST00000425898E7EVV8
ENSG00000185504ENST00000443656J3KQD8
ENSG00000185504ENST00000536161F5H5G6
ENSG00000185504ENST00000541246F5H095
ENSG00000185504ENST00000544302F5GZS4
ENSG00000185504ENST00000545865I3L2L9

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
FA core complexKEGGhsa_M00413
FA core complexKEGGM00413
DNA RepairREACTOMER-HSA-73894
Fanconi Anemia PathwayREACTOMER-HSA-6783310

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173961472007FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.75

Citation

Dessen P

FAAP100 (FA core complex associated protein 100)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50189/faap100