CDC14B

cell division cycle 14B, the group of CDC14 phosphatases

Basic information

Region (hg38): 9:96490241-96619843

Links

ENSG00000081377

∙ NCBI:8555 ∙ OMIM:603505 ∙ HGNC:1719 ∙ Uniprot:O60729 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CDC14B gene.

not_specified (57 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC14B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033331.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			55 clinvar	2 clinvar		57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDC14B	protein_coding	protein_coding	ENST00000375241	14	129590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.943	0.0569	125726	0	20	125746	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	217	263	0.824	0.0000137	3288
Missense in Polyphen		68	96.922	0.70159		1224
Synonymous	0.494	85	91.0	0.934	0.00000498	898
Loss of Function	4.07	4	26.7	0.150	0.00000131	347

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Dual-specificity phosphatase involved in DNA damage response. Essential regulator of the G2 DNA damage checkpoint: following DNA damage, translocates to the nucleus and dephosphorylates FZR1/CDH1, a key activator of the anaphase promoting complex/cyclosome (APC/C). Dephosphorylates SIRT2 around early anaphase. Dephosphorylation of FZR1/CDH1 activates the APC/C, leading to the ubiquitination of PLK1, preventing entry into mitosis. Preferentially dephosphorylates proteins modified by proline-directed kinases. {ECO:0000269|PubMed:17488717, ECO:0000269|PubMed:18662541, ECO:0000269|PubMed:9367992}.;
Pathway: Cell cycle - Homo sapiens (human);Cell Cycle;Signal Transduction;MAPK6/MAPK4 signaling;MAPK family signaling cascades;PLK1 signaling events (Consensus)

Recessive Scores

pRec: 0.0997

Intolerance Scores

loftool: 0.125
rvis_EVS: -0.31
rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

pHI
hipred: Y
hipred_score: 0.822
ghis: 0.609

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.923

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Cdc14b
Phenotype: skeleton phenotype; vision/eye phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype;

Zebrafish Information Network

Gene name: cdc14b
Affected structure: macula saccule
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

Biological process: microtubule cytoskeleton organization;mitotic cell cycle;DNA repair;protein dephosphorylation;regulation of exit from mitosis;positive regulation of cytokinesis;peptidyl-tyrosine dephosphorylation;mitotic cell cycle arrest;signal transduction involved in G2 DNA damage checkpoint;positive regulation of ubiquitin protein ligase activity
Cellular component: spindle pole;nucleus;nucleoplasm;nucleolus;cytoplasm;centrosome;mitotic spindle
Molecular function: protein serine/threonine phosphatase activity;protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity