NUMB

NUMB endocytic adaptor protein

Basic information

Region (hg38): 14:73275107-73466167

Previous symbols: [ "C14orf41" ]

Links

ENSG00000133961

∙ NCBI:8650 ∙ OMIM:603728 ∙ HGNC:8060 ∙ Uniprot:P49757 ∙ 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 NUMB gene.

not_specified (64 variants)
not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NUMB gene is commonly pathogenic or not. These statistics are base on transcript: NM_001005743.2. 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				1 clinvar	3 clinvar	4
missense			63 clinvar	1 clinvar		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	63	2	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NUMB	protein_coding	protein_coding	ENST00000355058	10	188534

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00400	0.996	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.37	303	378	0.802	0.0000206	4245
Missense in Polyphen		89	133.38	0.66725		1425
Synonymous	-0.228	136	133	1.03	0.00000695	1341
Loss of Function	3.15	9	26.5	0.340	0.00000126	311

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000306	0.000239
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000974	0.0000967
Middle Eastern	0.00	0.00
South Asian	0.0000992	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of neurogenesis. Also involved postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. May also mediate local repair of brain ventricular wall damage.;
Pathway: Notch signaling pathway - Homo sapiens (human);NOTCH-Ncore;Notch Signaling Pathway;Notch Signaling Pathway;Notch Signaling Pathway;Developmental Biology;Notch;Signal Transduction;Recycling pathway of L1;Notch;Signaling by NOTCH1;Signaling by NOTCH;Degradation of GLI1 by the proteasome;Hedgehog ,off, state;Hedgehog ,on, state;Signaling by Hedgehog;L1CAM interactions;Notch signaling pathway;Axon guidance;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Activated NOTCH1 Transmits Signal to the Nucleus (Consensus)

Recessive Scores

pRec: 0.264

Intolerance Scores

loftool: 0.806
rvis_EVS: -0.33
rvis_percentile_EVS: 30.7

Haploinsufficiency Scores

pHI: 0.759
hipred: Y
hipred_score: 0.731
ghis: 0.612

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.991

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Numb
Phenotype: normal 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); reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system 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); embryo phenotype; hearing/vestibular/ear phenotype; 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); digestive/alimentary phenotype; growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype;

Zebrafish Information Network

Gene name: numb
Affected structure: erythroid lineage cell
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

Biological process: axonogenesis;lateral ventricle development;neuroblast division in subventricular zone;positive regulation of cell migration;adherens junction organization;positive regulation of neurogenesis;regulation of postsynaptic neurotransmitter receptor internalization;negative regulation of protein localization to plasma membrane
Cellular component: nucleus;early endosome;plasma membrane;focal adhesion;basolateral plasma membrane;extrinsic component of plasma membrane;clathrin-coated vesicle;apical part of cell;glutamatergic synapse
Molecular function: protein binding;beta-catenin binding;alpha-catenin binding;cadherin binding