CITED4
Basic information
Region (hg38): 1:40861054-40862363
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CITED4 gene is commonly pathogenic or not.
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.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 26 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 26 | 0 | 0 |
Variants in CITED4
This is a list of pathogenic ClinVar variants found in the CITED4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-40861583-A-C | not specified | Uncertain significance (Mar 21, 2023) | ||
1-40861653-C-T | not specified | Uncertain significance (Mar 29, 2023) | ||
1-40861665-G-A | not specified | Uncertain significance (Mar 01, 2023) | ||
1-40861665-G-C | not specified | Uncertain significance (Dec 10, 2024) | ||
1-40861722-G-C | not specified | Uncertain significance (Aug 10, 2021) | ||
1-40861782-C-T | not specified | Uncertain significance (Jul 12, 2022) | ||
1-40861787-T-G | not specified | Uncertain significance (Sep 17, 2021) | ||
1-40861791-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
1-40861844-G-C | not specified | Uncertain significance (Sep 14, 2022) | ||
1-40861850-G-T | not specified | Uncertain significance (Feb 28, 2023) | ||
1-40861854-C-G | not specified | Uncertain significance (Jan 29, 2024) | ||
1-40861865-T-G | not specified | Uncertain significance (May 11, 2022) | ||
1-40861872-T-C | not specified | Uncertain significance (Dec 11, 2023) | ||
1-40861890-G-C | not specified | Uncertain significance (Aug 08, 2022) | ||
1-40861952-G-T | not specified | Uncertain significance (Jul 18, 2024) | ||
1-40861959-G-C | not specified | Uncertain significance (Dec 01, 2024) | ||
1-40861967-G-A | not specified | Uncertain significance (Mar 17, 2023) | ||
1-40861979-G-A | not specified | Uncertain significance (Dec 08, 2023) | ||
1-40862030-G-A | not specified | Uncertain significance (May 24, 2023) | ||
1-40862054-C-A | not specified | Uncertain significance (Aug 11, 2024) | ||
1-40862055-C-A | not specified | Uncertain significance (Aug 11, 2024) | ||
1-40862063-G-C | not specified | Uncertain significance (Apr 19, 2023) | ||
1-40862075-G-C | not specified | Uncertain significance (Sep 12, 2023) | ||
1-40862078-G-A | not specified | Uncertain significance (Mar 04, 2024) | ||
1-40862087-A-C | not specified | Uncertain significance (Jul 20, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CITED4 | protein_coding | protein_coding | ENST00000372638 | 1 | 1290 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.346 | 0.495 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.975 | 11 | 24.6 | 0.447 | 0.00000113 | 1068 |
Missense in Polyphen | 2 | 10.582 | 0.18899 | 357 | ||
Synonymous | 0.559 | 11 | 13.6 | 0.807 | 6.94e-7 | 428 |
Loss of Function | 0.714 | 0 | 0.594 | 0.00 | 2.60e-8 | 22 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as transcriptional coactivator for TFAP2/AP-2. Enhances estrogen-dependent transactivation mediated by estrogen receptors. May function as an inhibitor of transactivation by HIF1A by disrupting HIF1A interaction with CREBBP. May be involved in regulation of gene expression during development and differentiation of blood cells, endothelial cells and mammary epithelial cells. {ECO:0000269|PubMed:11744733, ECO:0000269|PubMed:15342390}.;
- Pathway
- Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Activation of the TFAP2 (AP-2) family of transcription factors;Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
(Consensus)
Haploinsufficiency Scores
- pHI
- 0.239
- hipred
- N
- hipred_score
- 0.238
- ghis
- 0.472
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.886
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cited4
- Phenotype
Zebrafish Information Network
- Gene name
- cited4b
- Affected structure
- muscle cell
- Phenotype tag
- abnormal
- Phenotype quality
- increased occurrence
Gene ontology
- Biological process
- regulation of transcription by RNA polymerase II;response to estrogen;positive regulation of transcription by RNA polymerase II
- Cellular component
- nucleus;nucleoplasm;cytoplasm
- Molecular function
- transcription coactivator activity