CACTIN
Basic information
Region (hg38): 19:3610645-3626815
Previous symbols: [ "C19orf29" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (73 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACTIN gene is commonly pathogenic or not. These statistics are base on transcript: NM_001080543.2. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 68 | 72 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 68 | 5 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CACTIN | protein_coding | protein_coding | ENST00000429344 | 10 | 16175 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.0000210 | 124434 | 0 | 2 | 124436 | 0.00000804 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.20 | 315 | 521 | 0.605 | 0.0000401 | 4820 |
| Missense in Polyphen | 90 | 208.43 | 0.4318 | 1836 | ||
| Synonymous | -1.37 | 257 | 231 | 1.11 | 0.0000186 | 1446 |
| Loss of Function | 5.31 | 1 | 34.8 | 0.0288 | 0.00000168 | 378 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000290 | 0.0000290 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000890 | 0.00000887 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon- regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing. {ECO:0000269|PubMed:20829348}.;
Intolerance Scores
- loftool
- rvis_EVS
- -0.75
- rvis_percentile_EVS
- 13.67
Haploinsufficiency Scores
- pHI
- 0.111
- hipred
- Y
- hipred_score
- 0.728
- ghis
- 0.593
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- gene_indispensability_score
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cactin
- Phenotype
Zebrafish Information Network
- Gene name
- cactin
- Affected structure
- photoreceptor outer segment layer
- Phenotype tag
- abnormal
- Phenotype quality
- disheveled
Gene ontology
- Biological process
- mRNA splicing, via spliceosome;negative regulation of protein phosphorylation;multicellular organism development;negative regulation of lipopolysaccharide-mediated signaling pathway;negative regulation of NF-kappaB transcription factor activity;negative regulation of interferon-beta production;negative regulation of interleukin-8 production;negative regulation of tumor necrosis factor production;negative regulation of toll-like receptor signaling pathway;innate immune response;negative regulation of type I interferon-mediated signaling pathway;cellular response to lipopolysaccharide;cellular response to interleukin-1;cellular response to tumor necrosis factor
- Cellular component
- nucleus;nucleoplasm;cytosol;nuclear speck;catalytic step 2 spliceosome
- Molecular function
- RNA binding;protein binding