SSC4D

scavenger receptor cysteine rich family member with 4 domains, the group of Scavenger receptor cysteine rich domain containing|Scavenger receptors

Basic information

Region (hg38): 7:76389334-76409697

Previous symbols: [ "SRCRB4D" ]

Links

ENSG00000146700NCBI:136853OMIM:607639HGNC:14461Uniprot:Q8WTU2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SSC4D gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSC4D 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
40
clinvar
3
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 40 3 0

Variants in SSC4D

This is a list of pathogenic ClinVar variants found in the SSC4D region.

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

Position Type Phenotype Significance ClinVar
7-76390066-G-A not specified Likely benign (Dec 21, 2023)3170315
7-76390105-T-C not specified Uncertain significance (Apr 04, 2024)3322783
7-76390253-G-A not specified Uncertain significance (Nov 20, 2024)3449692
7-76390331-C-T not specified Uncertain significance (Oct 04, 2024)3449699
7-76390340-C-T not specified Uncertain significance (Dec 17, 2023)3170314
7-76390345-C-T not specified Uncertain significance (Oct 18, 2021)2255722
7-76390372-T-C not specified Uncertain significance (May 12, 2024)3322784
7-76391990-C-A not specified Uncertain significance (Oct 26, 2022)2379445
7-76393443-T-C not specified Uncertain significance (Nov 10, 2022)2325673
7-76393465-G-A not specified Uncertain significance (Jun 16, 2022)2284021
7-76393528-C-A not specified Uncertain significance (Nov 23, 2024)3449693
7-76393585-C-T not specified Uncertain significance (Oct 26, 2022)2409995
7-76393671-C-T not specified Uncertain significance (Dec 23, 2022)2338019
7-76393675-C-G not specified Uncertain significance (Nov 21, 2022)2328599
7-76393677-C-G not specified Uncertain significance (Jun 29, 2023)2607566
7-76393715-A-C not specified Uncertain significance (Oct 26, 2022)2400984
7-76393850-G-A not specified Uncertain significance (Sep 27, 2021)2343986
7-76393851-C-T not specified Uncertain significance (Aug 13, 2021)2245150
7-76395259-G-A not specified Uncertain significance (Nov 13, 2023)2386152
7-76395270-C-A not specified Uncertain significance (Jan 16, 2024)3170319
7-76395289-T-C not specified Uncertain significance (Mar 19, 2024)3322782
7-76395291-G-A not specified Uncertain significance (Aug 04, 2023)2591832
7-76397674-C-G not specified Uncertain significance (Sep 30, 2021)2249141
7-76397677-C-G not specified Uncertain significance (Sep 30, 2021)2249140
7-76397679-A-C not specified Uncertain significance (Jun 11, 2021)2222744

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SSC4Dprotein_codingprotein_codingENST00000275560 1020362
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.18e-120.2001256570911257480.000362
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6812873210.8930.00001943577
Missense in Polyphen115132.040.870931486
Synonymous2.101081400.7740.000008831220
Loss of Function0.8532024.60.8140.00000135251

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005820.000582
Ashkenazi Jewish0.000.00
East Asian0.001090.00109
Finnish0.000.00
European (Non-Finnish)0.0001490.000141
Middle Eastern0.001090.00109
South Asian0.001090.00108
Other0.0004950.000489

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.163

Intolerance Scores

loftool
rvis_EVS
0.58
rvis_percentile_EVS
82.25

Haploinsufficiency Scores

pHI
0.107
hipred
N
hipred_score
0.300
ghis
0.415

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Ssc4d
Phenotype

Gene ontology

Biological process
receptor-mediated endocytosis
Cellular component
extracellular region;external side of plasma membrane
Molecular function
scavenger receptor activity