CCNB1IP1

cyclin B1 interacting protein 1, the group of Ring finger proteins|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 14:20311368-20333312

Previous symbols: [ "C14orf18" ]

Links

ENSG00000100814

∙ NCBI:57820 ∙ OMIM:608249 ∙ HGNC:19437 ∙ Uniprot:Q9NPC3 ∙ 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 CCNB1IP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCNB1IP1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	0	0	0

Variants in CCNB1IP1

This is a list of pathogenic ClinVar variants found in the CCNB1IP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-20316559-G-T			Benign (Apr 19, 2019)	1283893

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCNB1IP1	protein_coding	protein_coding	ENST00000398169	3	21945

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000104	0.824	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.07	122	160	0.762	0.00000881	1837
Missense in Polyphen		24	38.304	0.62656		465
Synonymous	-0.302	56	53.2	1.05	0.00000255	519
Loss of Function	1.25	8	12.8	0.624	9.42e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000276	0.000271
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000968	0.0000967
Middle Eastern	0.000163	0.000163
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalization of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL- gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over (By similarity). Modulates cyclin-B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis. {ECO:0000250, ECO:0000269|PubMed:12612082, ECO:0000269|PubMed:17297447}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

loftool: 0.201
rvis_EVS: -0.16
rvis_percentile_EVS: 41.91

Haploinsufficiency Scores

pHI: 0.130
hipred: Y
hipred_score: 0.815
ghis: 0.528

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.772

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ccnb1ip1
Phenotype: endocrine/exocrine gland phenotype; reproductive system phenotype;

Gene ontology

Biological process: blastocyst formation;reciprocal meiotic recombination;spermatid development;protein ubiquitination;chiasma assembly
Cellular component: synaptonemal complex
Molecular function: protein binding;transferase activity;metal ion binding