FAAP100 (FA core complex associated protein 100)

2008-07-01  

Identity

HGNC
FAAP100
LOCATION
17q25.3
LOCUSID
80233
ALIAS
C17orf70
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
173961472007FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.85
173961472007FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.85

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/css/js/gene-fusions/?id=50189