CWF19L1 (CWF19 like cell cycle control factor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55280
Gene name Gene Name - the full gene name approved by the HGNC.
CWF19 like cell cycle control factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CWF19L1
Synonyms (NCBI Gene) Gene synonyms aliases
C19L1, SCAR17, hDrn1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616120 25613 ENSG00000095485
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia Autosomal recessive spinocerebellar ataxia 17 rs1589611043, rs587780326, rs879255653, rs879255654, rs1554902760, rs1589625941, rs749679347 N/A
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease 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