SRBD1

S1 RNA binding domain 1

Basic information

Region (hg38): 2:45388680-45612165

Links

ENSG00000068784NCBI:55133HGNC:25521Uniprot:Q8N5C6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRBD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRBD1 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
64
clinvar
3
clinvar
67
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 64 3 0

Variants in SRBD1

This is a list of pathogenic ClinVar variants found in the SRBD1 region.

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

Position Type Phenotype Significance ClinVar
2-45389443-G-C not specified Uncertain significance (Jun 17, 2024)3322564
2-45389525-T-C not specified Uncertain significance (May 13, 2024)3322566
2-45389545-A-G not specified Uncertain significance (Aug 15, 2023)2618813
2-45392973-G-C not specified Uncertain significance (Dec 27, 2023)3169822
2-45393022-C-G not specified Uncertain significance (Jan 08, 2024)3169821
2-45393041-T-C not specified Uncertain significance (Apr 04, 2024)3322563
2-45393067-A-G not specified Uncertain significance (Aug 17, 2022)2308708
2-45393100-T-C not specified Likely benign (Oct 12, 2021)2367189
2-45393116-T-C not specified Uncertain significance (Jul 20, 2021)2375192
2-45413118-T-C not specified Uncertain significance (Apr 05, 2023)2519323
2-45413138-G-A not specified Uncertain significance (Mar 01, 2024)3169820
2-45413163-G-C Likely benign (Dec 01, 2022)2650868
2-45413166-T-G not specified Uncertain significance (Jul 12, 2023)2611666
2-45413183-T-G not specified Uncertain significance (Mar 29, 2024)3322562
2-45413256-C-T not specified Uncertain significance (Oct 05, 2022)2356955
2-45413289-G-C not specified Uncertain significance (Dec 16, 2023)3169819
2-45418378-G-C not specified Uncertain significance (Jun 29, 2023)2608705
2-45418432-G-C not specified Uncertain significance (Jan 26, 2022)2273020
2-45418518-T-C not specified Uncertain significance (Aug 02, 2021)2373073
2-45418539-T-C not specified Uncertain significance (Aug 02, 2021)2240622
2-45477060-C-T not specified Uncertain significance (Jan 23, 2023)2471506
2-45477061-G-A not specified Uncertain significance (Feb 15, 2023)2485240
2-45477064-T-C not specified Uncertain significance (Nov 13, 2023)3169816
2-45488246-T-C not specified Uncertain significance (Jun 07, 2023)2558548
2-45488273-T-A not specified Uncertain significance (Nov 08, 2022)2378585

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SRBD1protein_codingprotein_codingENST00000263736 20223486
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.69e-200.25912562501231257480.000489
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.856385191.230.00002666511
Missense in Polyphen148175.150.8452194
Synonymous-3.862521851.360.000009381888
Loss of Function1.693851.00.7450.00000272643

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004750.000474
Ashkenazi Jewish0.00009920.0000992
East Asian0.0004900.000489
Finnish0.0004200.000416
European (Non-Finnish)0.0006750.000659
Middle Eastern0.0004900.000489
South Asian0.0003330.000327
Other0.001020.000978

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.944
rvis_EVS
0.08
rvis_percentile_EVS
59.19

Haploinsufficiency Scores

pHI
0.188
hipred
N
hipred_score
0.333
ghis
0.495

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.974

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Srbd1
Phenotype

Gene ontology

Biological process
nucleobase-containing compound metabolic process;translation
Cellular component
Molecular function
mRNA binding;structural constituent of ribosome