MAD2L1BP

MAD2L1 binding protein

Basic information

Region (hg38): 6:43629540-43640941

Links

ENSG00000124688NCBI:9587OMIM:618136HGNC:21059Uniprot:Q15013AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAD2L1BP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAD2L1BP 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
18
clinvar
1
clinvar
1
clinvar
20
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 18 1 1

Variants in MAD2L1BP

This is a list of pathogenic ClinVar variants found in the MAD2L1BP region.

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

Position Type Phenotype Significance ClinVar
6-43636449-A-G not specified Likely benign (Jan 21, 2025)3869475
6-43636458-C-A not specified Uncertain significance (Jan 23, 2025)2391000
6-43636458-C-G not specified Uncertain significance (Dec 23, 2024)3869474
6-43636483-G-A not specified Uncertain significance (Dec 05, 2024)3541920
6-43636516-C-T not specified Uncertain significance (Nov 30, 2021)2262934
6-43636524-G-A not specified Uncertain significance (Jan 14, 2025)3869471
6-43636560-C-G not specified Uncertain significance (May 30, 2024)3292528
6-43636569-C-T not specified Uncertain significance (Aug 20, 2024)3541918
6-43636626-T-C not specified Uncertain significance (Feb 19, 2025)3869477
6-43636627-A-G not specified Uncertain significance (Jul 20, 2021)2238573
6-43640048-C-T not specified Uncertain significance (Feb 28, 2025)2383294
6-43640049-G-A not specified Uncertain significance (May 14, 2024)3292527
6-43640051-G-A not specified Uncertain significance (Mar 16, 2024)3292526
6-43640151-C-T not specified Uncertain significance (Dec 07, 2021)2345805
6-43640253-G-A not specified Uncertain significance (Oct 12, 2021)2254355
6-43640273-C-T not specified Uncertain significance (Oct 29, 2024)3541921
6-43640274-G-A not specified Uncertain significance (Mar 15, 2024)3292525
6-43640298-C-T Benign (Dec 31, 2019)713859
6-43640319-A-C not specified Uncertain significance (Dec 21, 2024)3869472
6-43640321-G-T not specified Uncertain significance (Nov 01, 2022)2395161
6-43640406-G-A not specified Uncertain significance (Dec 22, 2024)3869473
6-43640417-C-T not specified Uncertain significance (Oct 30, 2023)3121967
6-43640439-C-T not specified Uncertain significance (May 24, 2023)2518234
6-43640508-T-C not specified Uncertain significance (Jan 29, 2024)3121968
6-43640525-C-T not specified Uncertain significance (Dec 18, 2023)3121969

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MAD2L1BPprotein_codingprotein_codingENST00000451025 411413
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.44e-80.2161257220261257480.000103
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5391501700.8840.000009801958
Missense in Polyphen5067.4080.74175790
Synonymous0.5056065.20.9200.00000361629
Loss of Function0.4121314.70.8840.00000110135

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001300.000123
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.0001330.000132
Middle Eastern0.00005440.0000544
South Asian0.0002290.000229
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex. {ECO:0000269|PubMed:18022368}.;

Recessive Scores

pRec
0.0775

Intolerance Scores

loftool
0.313
rvis_EVS
-0.36
rvis_percentile_EVS
28.63

Haploinsufficiency Scores

pHI
0.127
hipred
Y
hipred_score
0.549
ghis
0.574

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
S
essential_gene_gene_trap
K
gene_indispensability_pred
E
gene_indispensability_score
0.979

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mad2l1bp
Phenotype

Gene ontology

Biological process
mitotic cell cycle checkpoint;regulation of exit from mitosis
Cellular component
nucleus;nucleolus;cytoplasm;spindle;nuclear membrane
Molecular function
protein binding