CWF19L1 (CWF19 like cell cycle control factor 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 55280
Gene name CWF19 like cell cycle control factor 1
Gene symbol CWF19L1
Synonyms (NCBI Gene)
C19L1SCAR17hDrn1
Chromosome 10
Chromosome location 10q24.31
Summary This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided b
SNPs SNP information provided by dbSNP.
10
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs150239404 G>A Pathogenic Coding sequence variant, stop gained, 5 prime UTR variant
rs587780326 C>T Pathogenic Splice donor variant
rs749679347 A>- Likely-pathogenic Coding sequence variant, frameshift variant
rs761174120 C>A,T Likely-pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs879255653 T>A,G Pathogenic Stop gained, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
359
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (359)
miRTarBase ID miRNA Experiments Reference
MIRT044327 hsa-miR-106b-5p CLASH 23622248
MIRT626084 hsa-miR-483-3p HITS-CLIP 23824327
MIRT626083 hsa-miR-4781-3p HITS-CLIP 23824327
MIRT626082 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT626081 hsa-miR-125a-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0061632 Function RNA lariat debranching enzyme activator activity IBA
GO:0071014 Component Post-mRNA release spliceosomal complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616120 25613 ENSG00000095485
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q69YN2
Protein name CWF19-like protein 1 (C19L1)
PDB 8RO2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04677 CwfJ_C_1 316 → 435 Protein similar to CwfJ C-terminus 1 Family
PF04676 CwfJ_C_2 440 → 535 Protein similar to CwfJ C-terminus 2 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many brain regions, including cerebellum, thalamus and occipital, parietal and temporal lobes (at protein level). Also expressed in the spinal cord (at protein level). {ECO:0000269|PubMed:25361784}.
Sequence 
MAQKPLRLLACGDVEGKFDILFNRVQAIQKKSGNFDLLLCVGNFFGSTQDAEWEEYKTGI
KKAPIQTYVLGANNQETVKYFQDADGCELAENITYLGRKGIFTGSSGLQIVYLSGTESLN
EPVPGYSFSPKDVSSLRMMLCTTSQFKGVDILLTSPWPKCVGNFGNSSGEVDTKKCGSAL
VSSLATGLKPRYHFAALEKTYYERLPYRNHIILQENAQHATRFIALANVGNPEKKKYLYA
FSIVPMKLMDAAELVKQPPDVTENPYRKSGQEASIGKQILAPVEESACQFFFDLNEKQGR
KRSSTGRDSKSSPHPKQPRKPPQPPGPCWFCLASPEVEKHLVVNIGTHCYLALAKGGLSD
DHVLILPIGHYQSVVELSAEVVEEVEKYKATLRRFFKSRGKWCVVFERNYKSHHLQLQVI
PVPISCSTTDDIKDAFITQAQEQQIELLEIPEHSDIKQIAQPGAAYFYVELDTGEKLFHR
IKKNFPLQFGREVLASEAILNVPDKSDWRQCQISKEDEETLARRFRKDFEPYDFTLDD
Sequence length 538
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
60
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive spinocerebellar ataxia 17 Pathogenic; Likely pathogenic rs2134307362, rs587780326, rs1330992740, rs1846514750, rs772446354, rs1424478086, rs1236392229, rs2493141408, rs879255653, rs879255654, rs1554902760, rs1589625941, rs749679347, rs1589611043, rs1846512047
View all (1 more)		 RCV001780599
RCV000149405
RCV002249020
RCV003222415
RCV002292700
RCV003123510
RCV003329477
RCV003329478
RCV000239678
RCV000239655
RCV000578457
RCV000985068
RCV001291710
RCV001004861
RCV001254151
RCV001265574
CWF19L1-related disorder Likely pathogenic rs1346497238 RCV003414257
Intellectual disability Likely pathogenic rs1846799593 RCV001291089
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs185005670 RCV005908562
Adrenocortical carcinoma, hereditary Benign rs2270962 RCV005888048
Colorectal cancer Benign rs2270962 RCV005888051
Familial cancer of breast Uncertain significance; Benign; Likely benign rs199666617, rs185005670 RCV005928849
RCV005908561
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 25361784, 36357319
Atrophy Associate 36357319
Cerebellar Ataxia Associate 26197978, 36357319
Diabetes Mellitus Type 2 Associate 37540242
Disease Progression Associate 36357319
Dyskinesia Drug Induced Associate 25361784
Intellectual Disability Associate 36357319
Non alcoholic Fatty Liver Disease Associate 24785259, 34558842
Spinocerebellar Ataxias Associate 36357319
Spinocerebellar Degenerations Associate 25361784