ISOC1

isochorismatase domain containing 1, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 5:129094749-129114028

Links

ENSG00000066583 ∙ NCBI:51015 ∙ ∙ HGNC:24254 ∙ Uniprot:Q96CN7 ∙ 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 ISOC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ISOC1 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			32	1		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	1	0

Variants in ISOC1

This is a list of pathogenic ClinVar variants found in the ISOC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-129094789-T-A		not specified	Uncertain significance (Oct 20, 2023)
5-129094792-T-C		not specified	Likely benign (Aug 30, 2021)
5-129094795-C-A		not specified	Uncertain significance (Nov 15, 2024)
5-129094797-C-T		not specified	Uncertain significance (Jan 26, 2023)
5-129094819-G-C		not specified	Uncertain significance (Jan 27, 2025)
5-129094828-C-T		not specified	Uncertain significance (Apr 20, 2023)
5-129094837-G-C		not specified	Uncertain significance (Oct 08, 2024)
5-129094856-C-G		not specified	Uncertain significance (Mar 25, 2024)
5-129094867-T-C		not specified	Uncertain significance (Dec 20, 2022)
5-129094944-G-T		not specified	Uncertain significance (Jul 11, 2023)
5-129095029-C-T		not specified	Uncertain significance (Jan 20, 2025)
5-129095031-G-C		not specified	Uncertain significance (May 08, 2024)
5-129095034-A-G		not specified	Uncertain significance (Aug 22, 2023)
5-129095055-C-A		not specified	Uncertain significance (Nov 30, 2022)
5-129095062-C-T		not specified	Uncertain significance (Dec 26, 2023)
5-129104960-C-T		not specified	Uncertain significance (Mar 07, 2024)
5-129105016-G-C		not specified	Uncertain significance (Oct 16, 2024)
5-129105061-G-A		not specified	Uncertain significance (May 08, 2023)
5-129105071-G-A		not specified	Uncertain significance (Dec 01, 2022)
5-129105192-G-A		not specified	Uncertain significance (Nov 14, 2024)
5-129105228-A-G		not specified	Uncertain significance (Jan 29, 2024)
5-129105255-C-G		not specified	Uncertain significance (Sep 01, 2021)
5-129105279-G-C		not specified	Uncertain significance (Sep 27, 2024)
5-129105306-A-G		not specified	Uncertain significance (Sep 27, 2024)
5-129105314-A-G		not specified	Uncertain significance (Dec 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ISOC1	protein_coding	protein_coding	ENST00000173527	5	19278

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.10e-8	0.256	124760	0	44	124804	0.000176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.308	157	168	0.933	0.00000858	1888
Missense in Polyphen		36	40.133	0.89701		476
Synonymous	-0.0620	73	72.3	1.01	0.00000413	628
Loss of Function	0.422	12	13.7	0.877	7.32e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000584	0.000583
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000125	0.000124
Middle Eastern	0.00	0.00
South Asian	0.000429	0.000425
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

• Pathway: JAK-STAT (Consensus)

Intolerance Scores

• loftool: 0.394
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• pHI: 0.147
• hipred: N
• hipred_score: 0.294
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.284

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Isoc1

Gene ontology

• Biological process: biological_process
• Cellular component: cytoplasm;peroxisome
• Molecular function: molecular_function;catalytic activity;protein binding