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.

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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

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

Mouse Genome Informatics

• Gene name: Sspo

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