Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10283
Gene name	CWC27 spliceosome associated cyclophilin
Gene symbol	CWC27
Synonyms (NCBI Gene)	NY-CO-10RPSKASDCCAG-10SDCCAG10
Chromosome	5
Chromosome location	5q12.3

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs752159903	A>-,AA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs781702398	C>A	Pathogenic	Coding sequence variant, stop gained
rs1085307446	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs1085307447	G>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant

Show/Hide all (45)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030476	hsa-miR-24-3p	Microarray	19748357
MIRT445334	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT445333	hsa-miR-3163	PAR-CLIP	22100165
MIRT445332	hsa-miR-4635	PAR-CLIP	22100165
MIRT445331	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT445334	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT445333	hsa-miR-3163	PAR-CLIP	22100165
MIRT445332	hsa-miR-4635	PAR-CLIP	22100165
MIRT445331	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT445334	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT445333	hsa-miR-3163	PAR-CLIP	22100165
MIRT445332	hsa-miR-4635	PAR-CLIP	22100165
MIRT445331	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT445334	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT445333	hsa-miR-3163	PAR-CLIP	22100165
MIRT445332	hsa-miR-4635	PAR-CLIP	22100165
MIRT445331	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT917410	hsa-miR-1260	CLIP-seq
MIRT917411	hsa-miR-1260b	CLIP-seq
MIRT917412	hsa-miR-1305	CLIP-seq
MIRT917413	hsa-miR-1321	CLIP-seq
MIRT917414	hsa-miR-1323	CLIP-seq
MIRT917415	hsa-miR-188-3p	CLIP-seq
MIRT917416	hsa-miR-205	CLIP-seq
MIRT917417	hsa-miR-3148	CLIP-seq
MIRT917418	hsa-miR-3156-3p	CLIP-seq
MIRT917419	hsa-miR-3606	CLIP-seq
MIRT917420	hsa-miR-3613-3p	CLIP-seq
MIRT917421	hsa-miR-3614-3p	CLIP-seq
MIRT917422	hsa-miR-3908	CLIP-seq
MIRT917423	hsa-miR-3942-5p	CLIP-seq
MIRT917424	hsa-miR-3974	CLIP-seq
MIRT917425	hsa-miR-4422	CLIP-seq
MIRT917426	hsa-miR-4496	CLIP-seq
MIRT917427	hsa-miR-4643	CLIP-seq
MIRT917428	hsa-miR-4703-5p	CLIP-seq
MIRT917429	hsa-miR-4739	CLIP-seq
MIRT917430	hsa-miR-4756-5p	CLIP-seq
MIRT917431	hsa-miR-4766-3p	CLIP-seq
MIRT917432	hsa-miR-488	CLIP-seq
MIRT917433	hsa-miR-548aa	CLIP-seq
MIRT917434	hsa-miR-548o	CLIP-seq
MIRT917435	hsa-miR-607	CLIP-seq
MIRT917436	hsa-miR-671-5p	CLIP-seq
MIRT917437	hsa-miR-921	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638, 29360106
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IDA	20676357
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IEA
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29360106
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
617170	10664	ENSG00000153015

Q6UX04

Protein name

Spliceosome-associated protein CWC27 homolog (Antigen NY-CO-10) (Probable inactive peptidyl-prolyl cis-trans isomerase CWC27 homolog) (PPIase CWC27) (Serologically defined colon cancer antigen 10)

Protein function

As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357). As a component of the minor spliceosome, involved in the splicing o

PDB

2HQ6 , 4R3E , 5Z56 , 5Z58 , 6FF4 , 6FF7 , 6YVH , 7DVQ , 8I0R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00160	Pro_isomerase	14 → 166	Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD	Domain

Sequence

MSNIYIQEPPTNGKVLLKTTAGDIDIELWSKEAPKACRNFIQLCLEAYYDNTIFHRVVPG
FIVQGGDPTGTGSGGESIYGAPFKDEFHSRLRFNRRGLVAMANAGSHDNGSQFFFTLGRA
DELNNKHTIFGKVTGDTVYNMLRLSEVDIDDDERPHNPHKIKSCEVLFNPFDDIIPREIK
RLKKEKPEEEVKKLKPKGTKNFSLLSFGEEAEEEEEEVNRVSQSMKGKSKSSHDLLKDDP
HLSSVPVVESEKGDAPDLVDDGEDESAEHDEYIDGDEKNLMRERIAKKLKKDTSANVKSA
GEGEVEKKSVSRSEELRKEARQLKRELLAAKQKKVENAAKQAEKRSEEEEAPPDGAVAEY
RREKQKYEALRKQQSKKGTSREDQTLALLNQFKSKLTQAIAETPENDIPETEVEDDEGWM
SHVLQFEDKSRKVKDASMQDSDTFEIYDPRNPVNKRRREESKKLMREKKERR

Sequence length

472

Interactions

View interactions

	Reactome
			mRNA Splicing - Major Pathway

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial pancreatic carcinoma	Likely pathogenic	rs767210188	RCV005912626
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	Likely pathogenic; Pathogenic	rs767210188, rs2112442370, rs2112207891, rs773382223, rs2112169750, rs1409955425, rs1085307446, rs1085307447, rs752159903, rs781702398	RCV005038173 RCV001526719 RCV005042588 RCV002251087 RCV002259539 RCV003492865 RCV000488877 RCV000488874 RCV000488875 RCV000488878
Retinal dystrophy	Pathogenic; Likely pathogenic	rs752159903, rs1372091680	RCV004816714 RCV001075856
Retinitis pigmentosa	Pathogenic	rs1085307446	RCV005407149

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance	rs371261961	RCV005911124
CWC27-related disorder	Likely benign; Benign; Uncertain significance	rs140266671, rs140088358, rs1580599461, rs200915173, rs1309581, rs748484202, rs751118155, rs113547129, rs114765726, rs369814947, rs376501189, rs10055003, rs764283583	RCV003938795 RCV003930920 RCV003930970 RCV003908815 RCV003908842 RCV003909080 RCV004758289 RCV003936809 RCV004758080 RCV004758096 RCV003923219 RCV004758099 RCV004758138
Familial cancer of breast	Benign	rs200915173	RCV005867103
Gastric cancer	Uncertain significance	rs149929520	RCV005924155
Ovarian serous cystadenocarcinoma	Uncertain significance	rs370593428	RCV005910991
Uterine corpus endometrial carcinoma	Uncertain significance	rs370669132	RCV005924237

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	36039594
Cognition Disorders	Associate	36039594
Developmental Defects of Enamel	Associate	32329775
Hemangioblastoma	Associate	28742274
Immunologic Deficiency Syndromes	Associate	32329775
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa	Associate	38134094
Mitochondrial Diseases	Associate	36039594
Neuroinflammatory Diseases	Associate	36039594
Refsum Disease Infantile	Associate	34828430
Retinal Degeneration	Associate	32329775
Urinary Bladder Neoplasms	Associate	36124064

CWC27 (CWC27 spliceosome associated cyclophilin)