Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	348807
Gene name	Cilia and flagella associated protein 100
Gene symbol	CFAP100
Synonyms (NCBI Gene)	CCDC37MIA1
Chromosome	3
Chromosome location	3q21.3

12 Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	ISS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	29257953
GO:0036159	Process	Inner dynein arm assembly	ISS
GO:0042995	Component	Cell projection	IEA
GO:0070840	Function	Dynein complex binding	ISS
GO:0097545	Component	Axonemal doublet microtubule	ISS

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q494V2

Protein name

Cilia- and flagella-associated protein 100 (Coiled-coil domain-containing protein 37)

Protein function

May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm.

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13863	DUF4200	151 → 269	Domain of unknown function (DUF4200)	Family

Sequence

MSEIPSTIVSKNMTNDKNSLESMNISSSSSTEENPKKQARKNEEHGPDPSANPFHLSGDV
DFFLLRDQERNKALSERQQQKTMRVHQKMTYSSKVSAKHTSLRRQLQLEDKQEDLEARAE
AEHQRAFRDYTTWKLTLTKEKNVEPENMSGYIKQKRQMFLLQYALDVKRREIQRLETLAT
KEEARLERAEKSLEKDAALFDEFVRENDCSSVQAMRAAEKETKAKIEKILEIRDLTTQIV
NIKSEISRFEDTLKHYKVYKDFLYKLSPKEWLEEQEKKHSFLKKAKEVSEASKESSVNST
PGDKGPGIKGKASSMWAKEGQGTKKPWRFLQTMRLGRSPSYLSSPQQGSQPSESSGGDSR
GSNSPIPPTQEDTDSDGEEPQLYFTEPQQLLDVFRELEEQNLSLIQNSQETEKTLEELSH
TLKHTQIRMDREVNQLKQWVTTMMMSITKEEDTAAELELKARVFHFGEYKGDQQDKLLES
LNCKVLDVYRHCTGTQQEANLGTVQMLTIIEHQLDELLENLEHVPQVKIEQAERAKEKER
RIRLREEKLQMQKILQEEHLQRARARAQAEIKKKRGRTLVCRSRPPAHRIKQQSEHTLMD
KEEEELLFFFT

Sequence length

611

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (8)
Carcinoma of lung	Lung carcinoma	BEFREE	26200272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22011669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26200272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	26200272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26200272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26200272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26200272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26200272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with CFAP100 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for CFAP100.

Diseases Linked via Similar Genes Diseases curated for genes most similar to CFAP100 (see Related Genes above), that are NOT already directly curated for CFAP100 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to CFAP100.

CFAP100 (cilia and flagella associated protein 100)

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