SHISA8

shisa family member 8, the group of Shisa family members

Basic information

Region (hg38): 22:41909542-41915074

Previous symbols: [ "C22orf17" ]

Links

ENSG00000234965 ∙ NCBI:440829 ∙ OMIM:617329 ∙ HGNC:18351 ∙ Uniprot:B8ZZ34 ∙ 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 SHISA8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SHISA8 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	2		44
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	2	0

Variants in SHISA8

This is a list of pathogenic ClinVar variants found in the SHISA8 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-41909789-A-C		not specified	Uncertain significance (Dec 15, 2023)
22-41909797-T-C			Likely benign (Jul 01, 2023)
22-41909827-C-G		not specified	Likely benign (May 18, 2023)
22-41909862-G-A		not specified	Uncertain significance (Oct 27, 2022)
22-41909874-C-G		not specified	Uncertain significance (Jul 26, 2022)
22-41909929-C-T		not specified	Uncertain significance (Sep 17, 2021)
22-41909943-A-G		not specified	Uncertain significance (Sep 13, 2023)
22-41909950-C-T		not specified	Uncertain significance (Nov 17, 2023)
22-41909988-G-A		not specified	Uncertain significance (May 09, 2023)
22-41909998-C-T		not specified	Uncertain significance (Mar 07, 2024)
22-41910053-C-G		not specified	Uncertain significance (Mar 29, 2022)
22-41910085-G-A		not specified	Uncertain significance (Jan 20, 2023)
22-41910096-G-C		not specified	Uncertain significance (Jul 29, 2023)
22-41910115-G-A		not specified	Uncertain significance (Jan 08, 2024)
22-41910426-C-A		not specified	Uncertain significance (Mar 14, 2023)
22-41910434-A-G		not specified	Uncertain significance (Mar 07, 2023)
22-41910497-C-T		not specified	Uncertain significance (Jul 31, 2023)
22-41910501-G-A		not specified	Uncertain significance (Nov 09, 2023)
22-41910501-G-T		not specified	Uncertain significance (Apr 15, 2024)
22-41910521-G-A		not specified	Uncertain significance (Aug 08, 2023)
22-41910522-A-C		not specified	Uncertain significance (Aug 16, 2021)
22-41910524-C-T		not specified	Uncertain significance (Nov 18, 2022)
22-41910537-T-G		not specified	Uncertain significance (Jan 31, 2024)
22-41910546-G-A		not specified	Uncertain significance (Nov 21, 2022)
22-41910554-T-A		not specified	Uncertain significance (Jan 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SHISA8	protein_coding	protein_coding	ENST00000457093	2	3274

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.378	0.488	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.562	10	16.4	0.610	8.30e-7	998
Missense in Polyphen		4	4.5823	0.87293		245
Synonymous	0.982	4	7.40	0.541	3.96e-7	367
Loss of Function	0.863	0	0.867	0.00	3.77e-8	48

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate trafficking and current kinetics of AMPA- type glutamate receptor (AMPAR) at synapses. {ECO:0000250|UniProtKB:J3QNX5}.

Haploinsufficiency Scores

• ghis: 0.535

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Mouse Genome Informatics

• Gene name: Shisa8

Gene ontology

• Biological process: regulation of short-term neuronal synaptic plasticity;regulation of AMPA receptor activity
• Cellular component: postsynaptic density;AMPA glutamate receptor complex;dendritic spine membrane;synapse;postsynaptic membrane