CITED4

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4

Basic information

Region (hg38): 1:40861054-40862363

Links

ENSG00000179862NCBI:163732OMIM:606815HGNC:18696Uniprot:Q96RK1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CITED4 gene.

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
clinvar
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)2527639
1-40861653-C-T not specified Uncertain significance (Mar 29, 2023)2531516
1-40861665-G-A not specified Uncertain significance (Mar 01, 2023)2492835
1-40861665-G-C not specified Uncertain significance (Dec 10, 2024)3493103
1-40861722-G-C not specified Uncertain significance (Aug 10, 2021)3145180
1-40861782-C-T not specified Uncertain significance (Jul 12, 2022)2301071
1-40861787-T-G not specified Uncertain significance (Sep 17, 2021)2233764
1-40861791-G-A not specified Uncertain significance (Dec 16, 2023)3145179
1-40861844-G-C not specified Uncertain significance (Sep 14, 2022)2311839
1-40861850-G-T not specified Uncertain significance (Feb 28, 2023)2471134
1-40861854-C-G not specified Uncertain significance (Jan 29, 2024)3145178
1-40861865-T-G not specified Uncertain significance (May 11, 2022)3145177
1-40861872-T-C not specified Uncertain significance (Dec 11, 2023)3145176
1-40861890-G-C not specified Uncertain significance (Aug 08, 2022)2305495
1-40861952-G-T not specified Uncertain significance (Jul 18, 2024)2297882
1-40861959-G-C not specified Uncertain significance (Dec 01, 2024)3493104
1-40861967-G-A not specified Uncertain significance (Mar 17, 2023)2526310
1-40861979-G-A not specified Uncertain significance (Dec 08, 2023)3145175
1-40862030-G-A not specified Uncertain significance (May 24, 2023)2519366
1-40862054-C-A not specified Uncertain significance (Aug 11, 2024)2366366
1-40862055-C-A not specified Uncertain significance (Aug 11, 2024)2366365
1-40862063-G-C not specified Uncertain significance (Apr 19, 2023)2538558
1-40862075-G-C not specified Uncertain significance (Sep 12, 2023)2591822
1-40862078-G-A not specified Uncertain significance (Mar 04, 2024)3145181
1-40862087-A-C not specified Uncertain significance (Jul 20, 2021)2374878

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CITED4protein_codingprotein_codingENST00000372638 11290
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3460.49500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9751124.60.4470.000001131068
Missense in Polyphen210.5820.18899357
Synonymous0.5591113.60.8076.94e-7428
Loss of Function0.71400.5940.002.60e-822

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

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