SHISAL2B

shisa like 2B

Basic information

Region (hg38): 5:64690442-64718190

Previous symbols: [ "FAM159B" ]

Links

ENSG00000145642 ∙ NCBI:100132916 ∙ OMIM:620219 ∙ HGNC:34236 ∙ Uniprot:A6NKW6 ∙ 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 SHISAL2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SHISAL2B 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in SHISAL2B

This is a list of pathogenic ClinVar variants found in the SHISAL2B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-64690634-C-A		not specified	Likely benign (Jun 24, 2022)
5-64690658-A-G		not specified	Uncertain significance (Feb 28, 2023)
5-64690664-T-A		not specified	Uncertain significance (Mar 24, 2023)
5-64690693-T-A		not specified	Uncertain significance (Feb 12, 2025)
5-64690729-T-C		not specified	Uncertain significance (Aug 04, 2023)
5-64690730-G-A		not specified	Uncertain significance (Jun 18, 2021)
5-64690742-C-A		not specified	Uncertain significance (Nov 11, 2024)
5-64690747-C-A		not specified	Uncertain significance (Mar 20, 2024)
5-64690787-A-G		not specified	Uncertain significance (Aug 12, 2022)
5-64690798-T-C		not specified	Uncertain significance (Jun 23, 2023)
5-64690802-T-A		not specified	Uncertain significance (May 23, 2023)
5-64695507-C-G		not specified	Uncertain significance (Dec 20, 2023)
5-64695524-G-C		not specified	Uncertain significance (Dec 09, 2023)
5-64695550-C-T		not specified	Uncertain significance (Sep 02, 2024)
5-64695553-G-A		not specified	Uncertain significance (Jan 26, 2025)
5-64695553-G-T		not specified	Uncertain significance (Mar 29, 2023)
5-64695611-G-A		not specified	Uncertain significance (Jul 09, 2021)
5-64695647-C-A		not specified	Uncertain significance (Aug 22, 2023)
5-64717919-A-T		not specified	Uncertain significance (May 18, 2023)
5-64717930-G-A		not specified	Uncertain significance (Apr 10, 2023)
5-64717934-C-T		not specified	Uncertain significance (Dec 10, 2024)
5-64717949-A-C		not specified	Uncertain significance (Feb 04, 2025)
5-64717958-A-G		not specified	Uncertain significance (Aug 12, 2022)
5-64717969-G-A		not specified	Uncertain significance (Nov 20, 2024)
5-64718012-T-C		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SHISAL2B	protein_coding	protein_coding	ENST00000389074	3	27783

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00345	0.634	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.384	57	65.8	0.867	0.00000300	1015
Missense in Polyphen		28	24.604	1.138		350
Synonymous	-0.487	30	26.8	1.12	0.00000131	294
Loss of Function	0.504	4	5.25	0.763	2.23e-7	90

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

Intolerance Scores

• rvis_EVS: 0.5
• rvis_percentile_EVS: 79.79

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.428

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Shisal2b

Gene ontology

• Cellular component: integral component of membrane