MYPOP

Myb related transcription factor, partner of profilin, the group of Myb/SANT domain containing

Basic information

Region (hg38): 19:45890023-45902613

Links

ENSG00000176182NCBI:339344OMIM:617861HGNC:20178Uniprot:Q86VE0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYPOP 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
42
clinvar
1
clinvar
43
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 42 1 0

Variants in MYPOP

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

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

Position Type Phenotype Significance ClinVar
19-45890643-C-T not specified Uncertain significance (Jan 27, 2025)3877272
19-45890651-T-C not specified Uncertain significance (Jan 10, 2025)3877276
19-45890705-A-G not specified Uncertain significance (Jun 11, 2021)2405816
19-45890714-G-C not specified Uncertain significance (Jan 16, 2025)3877271
19-45890714-G-T not specified Uncertain significance (Apr 17, 2023)2537146
19-45890720-G-A not specified Uncertain significance (Aug 20, 2024)2396873
19-45890723-C-T not specified Uncertain significance (Jan 04, 2024)3169503
19-45890724-G-A not specified Uncertain significance (Jun 21, 2023)2604878
19-45890729-G-T not specified Uncertain significance (Jan 16, 2024)3169495
19-45890753-A-C not specified Uncertain significance (Jan 23, 2024)3169492
19-45890775-C-T not specified Uncertain significance (May 29, 2024)3298159
19-45890784-C-G not specified Uncertain significance (Sep 16, 2021)2250465
19-45890784-C-T not specified Uncertain significance (Jun 10, 2022)2385629
19-45890805-C-T not specified Uncertain significance (Sep 09, 2021)2248924
19-45890810-A-T not specified Uncertain significance (Feb 19, 2025)3877277
19-45890874-G-A not specified Uncertain significance (Feb 26, 2025)3877275
19-45890921-G-T not specified Uncertain significance (Dec 19, 2022)2336957
19-45890946-C-A not specified Uncertain significance (Mar 25, 2024)3298158
19-45890969-G-T not specified Uncertain significance (Aug 27, 2024)3402143
19-45890981-C-T not specified Uncertain significance (Jan 10, 2025)3877274
19-45890991-C-T not specified Uncertain significance (Nov 21, 2023)3169556
19-45891002-C-T not specified Uncertain significance (Nov 07, 2023)3169554
19-45891011-T-C not specified Uncertain significance (Dec 10, 2024)3402139
19-45891032-C-T not specified Uncertain significance (Aug 04, 2021)2356393
19-45891068-G-A not specified Likely benign (Nov 15, 2024)3402145

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MYPOPprotein_codingprotein_codingENST00000322217 212585
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6690.327123060031230630.0000122
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9751561940.8030.00001162390
Missense in Polyphen5485.3390.63277967
Synonymous-0.04018887.51.010.00000551921
Loss of Function2.2717.880.1274.06e-7106

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009390.0000933
Ashkenazi Jewish0.0001110.000101
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Transcriptional repressor; DNA-binding protein that specifically recognizes the core sequence 5'-YAAC[GT]G-3'. Dimerization with PFN1 reduces its DNA-binding capacity (By similarity). {ECO:0000250}.;

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.372
ghis
0.562

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.109

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mypop
Phenotype

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II
Cellular component
nucleus
Molecular function
RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;protein homodimerization activity