CCDC141

coiled-coil domain containing 141, the group of Immunoglobulin like domain containing

Basic information

Region (hg38): 2:178829757-179050137

Links

ENSG00000163492NCBI:285025OMIM:616031HGNC:26821Uniprot:Q6ZP82AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Kallmann syndrome (Supportive), mode of inheritance: AD
  • hypogonadotropic hypogonadism (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC141 gene.

  • not_specified (222 variants)
  • not_provided (193 variants)
  • CCDC141-related_disorder (18 variants)
  • Hypogonadotropic_hypogonadism_7_with_or_without_anosmia (7 variants)
  • Hypogonadotropic_hypogonadism (2 variants)
  • Disorder_of_sexual_differentiation (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC141 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173648.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
47
clinvar
1
clinvar
49
missense
262
clinvar
36
clinvar
5
clinvar
303
nonsense
4
clinvar
2
clinvar
6
start loss
0
frameshift
6
clinvar
6
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 274 85 6
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCDC141protein_codingprotein_codingENST00000420890 24220330
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.59e-330.0058712558501561257410.000621
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.03547507471.000.000037710093
Missense in Polyphen207214.110.96683291
Synonymous0.5162712820.9610.00001502777
Loss of Function1.575973.50.8030.00000351976

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0009240.000784
Ashkenazi Jewish0.00009930.0000992
East Asian0.0009420.000925
Finnish0.0001390.000139
European (Non-Finnish)0.0003830.000360
Middle Eastern0.0009420.000925
South Asian0.002450.00242
Other0.0003560.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a critical role in radial migration and centrosomal function. {ECO:0000250|UniProtKB:A2AST1}.;

Recessive Scores

pRec
0.0869

Haploinsufficiency Scores

pHI
0.212
hipred
N
hipred_score
0.206
ghis
0.451

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
E
gene_indispensability_score
0.557

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccdc141
Phenotype
cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process
Cellular component
cytoplasm;microtubule organizing center
Molecular function
protein binding