GeneBe

SSPOP

SCO-spondin, pseudogene

Basic information

Region (hg38): 7:149776042-149833829

Previous symbols: [ "SSPO" ]

Links

ENSG00000197558 ∙ NCBI:23145 ∙ OMIM:617356 ∙ HGNC:21998 ∙ Uniprot:A2VEC9 ∙ 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 SSPOP gene.

  • Inborn genetic diseases (111 variants)
  • not provided (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSPOP 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
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
3
clinvar
 3
splice region
0
non coding
98
clinvar
19
clinvar
 117
Total 0 0 101 19 0

Variants in SSPOP

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

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

Position Type Phenotype Significance ClinVar
7-149776348-G-A not specified Uncertain significance (Mar 06, 2023)3170463
7-149776369-C-G not specified Uncertain significance (Jan 31, 2022)2370929
7-149776371-A-C not specified Uncertain significance (Jan 10, 2023)2457922
7-149776375-G-A not specified Likely benign (Feb 16, 2023)2457923
7-149776444-G-T not specified Uncertain significance (Apr 08, 2024)3322844
7-149776455-C-T not specified Uncertain significance (May 31, 2022)2293317
7-149776474-G-A not specified Uncertain significance (Nov 02, 2021)2258773
7-149776480-G-A not specified Likely benign (Jan 10, 2023)2470963
7-149776480-G-T not specified Uncertain significance (Aug 26, 2022)2341297
7-149776492-C-T not specified Uncertain significance (Apr 04, 2023)2569246
7-149776495-G-A Likely benign (Jan 01, 2023)2658148
7-149776935-A-T not specified Uncertain significance (Aug 02, 2021)3170448
7-149776948-C-T not specified Uncertain significance (Jun 09, 2022)2408289
7-149776966-C-T not specified Uncertain significance (Dec 14, 2022)3170449
7-149776999-G-T not specified Uncertain significance (Oct 26, 2021)2405209
7-149777232-G-T not specified Uncertain significance (May 28, 2024)3322851
7-149777300-G-A not specified Uncertain significance (May 20, 2024)3322836
7-149777337-G-A not specified Uncertain significance (Dec 15, 2021)2267537
7-149777665-T-C not specified Uncertain significance (Nov 08, 2022)2375789
7-149777729-T-C not specified Uncertain significance (Jun 07, 2023)2559119
7-149777737-C-T not specified Uncertain significance (May 31, 2023)2553456
7-149777765-C-T not specified Uncertain significance (Jun 30, 2022)2299648
7-149777786-C-T not specified Uncertain significance (Feb 09, 2023)2482651
7-149777795-C-A not specified Uncertain significance (Nov 10, 2022)2325412
7-149777806-C-T not specified Uncertain significance (Nov 17, 2023)3170469

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in the modulation of neuronal aggregation. May be involved in developmental events during the formation of the central nervous system (By similarity). {ECO:0000250}.;
Pathway
Post-translational protein modification;Metabolism of proteins;O-glycosylation of TSR domain-containing proteins;O-linked glycosylation (Consensus)

Haploinsufficiency Scores

pHI
0.204
hipred
hipred_score
ghis

Mouse Genome Informatics

Gene name
Sspo
Phenotype

Gene ontology

Biological process
cell adhesion;nervous system development;negative regulation of peptidase activity;cell differentiation
Cellular component
extracellular space
Molecular function
peptidase inhibitor activity