Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	388327
Gene name	Chromosome 17 open reading frame 100
Gene symbol	C17orf100
Synonyms (NCBI Gene)	-
Chromosome	17
Chromosome location	17p13.1

22 Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018140	hsa-miR-335-5p	Microarray	18185580
MIRT047274	hsa-miR-181b-5p	CLASH	23622248
MIRT835598	hsa-miR-1305	CLIP-seq
MIRT835599	hsa-miR-3671	CLIP-seq
MIRT835600	hsa-miR-4477b	CLIP-seq
MIRT835601	hsa-miR-548ag	CLIP-seq
MIRT835602	hsa-miR-548ai	CLIP-seq
MIRT835603	hsa-miR-607	CLIP-seq
MIRT835604	hsa-miR-645	CLIP-seq
MIRT1947618	hsa-miR-3616-3p	CLIP-seq
MIRT1947619	hsa-miR-4303	CLIP-seq
MIRT1947620	hsa-miR-4721	CLIP-seq
MIRT2185589	hsa-miR-1343	CLIP-seq
MIRT2185590	hsa-miR-2861	CLIP-seq
MIRT2185591	hsa-miR-4793-5p	CLIP-seq
MIRT2185592	hsa-miR-570	CLIP-seq
MIRT2489813	hsa-miR-410	CLIP-seq
MIRT2489814	hsa-miR-513c	CLIP-seq
MIRT2489815	hsa-miR-514b-5p	CLIP-seq
MIRT2489816	hsa-miR-618	CLIP-seq
MIRT2489817	hsa-miR-671-3p	CLIP-seq
MIRT2489818	hsa-miR-942	CLIP-seq

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	A8MU93
Protein name	Uncharacterized protein C17orf100
Family and domains
Sequence	MASARGAKQSSPRVGTTRYTETSTVRVETSSHRVETSSRRVETSQRRSEGPSLSPSGKRL PRILEASSRHVESSSQRTETTSRHVRASSLRVETSLHCAESPTPRAKPAARQNEKTAR
Sequence length	118
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.
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	27082954	★★★★★ ★★☆☆☆ 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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA	Epileptic encephalopathy	CLINVAR_DG	27261973, 28673551		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with C17orf100 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for C17orf100.

Diseases Linked via Similar Genes Diseases curated for genes most similar to C17orf100 (see Related Genes above), that are NOT already directly curated for C17orf100 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 C17orf100.

C17orf100 (chromosome 17 open reading frame 100)

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