ISOC2

isochorismatase domain containing 2

Basic information

Region (hg38): 19:55452985-55462343

Links

ENSG00000063241 ∙ NCBI:79763 ∙ OMIM:612928 ∙ HGNC:26278 ∙ Uniprot:Q96AB3 ∙ 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 ISOC2 gene.

• not_specified (47 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ISOC2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001136201.2. 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			42			42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ISOC2	protein_coding	protein_coding	ENST00000085068	5	9359

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000130	0.400	125722	0	15	125737	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0369	141	140	1.01	0.00000911	1393
Missense in Polyphen		41	46.842	0.87529		462
Synonymous	0.207	56	58.0	0.965	0.00000347	488
Loss of Function	0.362	8	9.19	0.871	4.78e-7	95

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000931	0.0000914
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.0000478	0.0000462
European (Non-Finnish)	0.0000443	0.0000440
Middle Eastern	0.000164	0.000163
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: JAK-STAT (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.106
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.35

Haploinsufficiency Scores

• pHI: 0.186
• hipred: N
• hipred_score: 0.146
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.842

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Isoc2b

Gene ontology

• Biological process: protein destabilization
• Cellular component: nucleus;cytoplasm
• Molecular function: catalytic activity;protein binding