CWC27 (CWC27 spliceosome associated cyclophilin)

Gene

• Entrez ID: 10283
• Gene name: CWC27 spliceosome associated cyclophilin
• Gene symbol: CWC27
• Synonyms (NCBI Gene): NY-CO-10, RPSKA, SDCCAG-10, SDCCAG10
• Chromosome: 5
• Chromosome location: 5q12.3

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 617170
• HGNC: 10664
• e!Ensembl: ENSG00000153015

Protein

• UniProt ID: 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

Pathways

Reactome:

mRNA Splicing - Major Pathway

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Familial pancreatic carcinoma	Likely pathogenic	rs767210188	RCV005912626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs752159903, rs1372091680	RCV004816714 RCV001075856	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic	rs1085307446	RCV005407149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, SHORT STATURE, RETINITIS PIGMENTOSA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CWC27-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	36039594	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27206850		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly-short stature-retinitis pigmentosa syndrome	Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of bladder	Bladder carcinoma	BEFREE	27206850		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	GWASCAT_DG	27206850		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36039594	Associate	★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27206850		★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa	Metaphyseal Chondrodysplasia With Retinitis Pigmentosa	ORPHANET_DG	28285769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa	Metaphyseal Chondrodysplasia With Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	28285769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa	Metaphyseal chondrodysplasia with retinitis pigmentosa	Pubtator	38134094	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa	Metaphyseal Chondrodysplasia With Retinitis Pigmentosa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa	Metaphyseal Chondrodysplasia With Retinitis Pigmentosa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36039594	Associate	★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	32329775	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28285769		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36124064	Associate	★☆☆☆☆ Found in Text Mining only