Gene
FAAP100
FA core complex associated protein 100
- HGNC 26171↗(opens in a new tab)
- Ensembl gene ENSG00000185504↗(opens in a new tab)
- NCBI Gene 80233↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.3
- Coordinates
- Chromosome 17: 81,539,891–81,552,353 (GRCh38)
- Exons
- 9 exons across 12.5 kb
- Protein
- 881 amino acids
- Also known as
- FLJ22175
- Previous symbols
- C17orf70
- MANE Select transcript
- ENST00000327787.13NM_025161.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads FAAP100 yet. The test sequences your whole genome, so your data includes it all the same.
How FAAP100 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.6 kb of the gene's 12.5 kb; 2,646 of those bases code for the protein.
How a genome test reads FAAP100
1
position in FAAP100 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 12.5 kb of FAAP100, introns included, not only the 3.6 kb of exons.
Traits linked to FAAP100
The Human Phenotype Ontology lists these as features of the rare conditions FAAP100 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Absent thumb
- Curvature of little finger
- Oligodactyly
- Webbed skin of 2nd-3rd toes
- Abnormality of the thumb
- Abnormality of the upper limb
- Aplasia/Hypoplasia of the radius
- Absent forearm
Show 17 more traits
- Clinodactyly of the 5th toe
- Club feet
- Missing outer large bone of forearm
- Phocomelia
- Radial ray deficiency
- Short humerus
- Abnormal feet structure
- Abnormal morphology of ulna
- Abnormality of the thighbone
- Absent/small fingers
- Clubbed toes
- Dropped arches
- Finger syndactyly
- Finger-like thumb
- Fused toes
- Hip dislocation
- Underdeveloped inner large forearm bone
Abnormality of the digestive system
- Absence or narrowing of first part of small bowel
- Abnormal connection between trachea and esophagus
- Absent anus
- Birth defect in which part of esophagus did not develop
- Inguinal hernia
- Pancreatic islet-cell hyperplasia
- Abnormality of the liver
- Duodenal stenosis
Show 3 more traits
Abnormality of blood and blood-forming tissues
- Decreased blood leukocyte number
- Increased mean corpuscular volume
- Increased RBC distribution width
- Low blood cell count
- Low blood neutrophil count
- Low number of red blood cells or hemoglobin
- Low platelet count
- Abnormality of blood and blood-forming tissues
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). FAAP100 gene: FA core complex associated protein 100. Retrieved 17 October 2026, from https://dantelabs.com/genes/faap100
Dante Labs. FAAP100 gene: FA core complex associated protein 100 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/faap100
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