INTS8

integrator complex subunit 8, the group of Integrator complex

Basic information

Region (hg38): 8:94813311-94881746

Previous symbols: [ "C8orf52" ]

Links

ENSG00000164941 ∙ NCBI:55656 ∙ OMIM:611351 ∙ HGNC:26048 ∙ Uniprot:Q75QN2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder with cerebellar hypoplasia and spasticity (Limited), mode of inheritance: AR
• neurodevelopmental disorder with cerebellar hypoplasia and spasticity (Limited), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the INTS8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INTS8 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				6	3	9
missense			38	5		43
nonsense		1				1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region					2	2
non coding			1		2	3
Total	0	1	40	11	5

Variants in INTS8

This is a list of pathogenic ClinVar variants found in the INTS8 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-94822929-A-G			Benign (Feb 01, 2023)
8-94823547-G-T		not specified	Uncertain significance (Nov 25, 2024)
8-94824884-A-G		INTS8-related disorder	Benign (Nov 19, 2019)
8-94824920-A-T		not specified	Uncertain significance (Jun 11, 2021)
8-94824926-TG-T		Malignant tumor of prostate	Uncertain significance (-)
8-94824972-A-C		not specified	Uncertain significance (May 31, 2023)
8-94824989-A-G		not specified	Uncertain significance (Oct 12, 2022)
8-94825062-G-A		INTS8-related disorder	Likely benign (Dec 23, 2019)
8-94827290-A-G			Likely benign (Jun 01, 2020)
8-94827354-G-A		not specified	Uncertain significance (Dec 20, 2021)
8-94827369-A-G		not specified	Uncertain significance (Aug 27, 2024)
8-94827759-A-C		Long QT syndrome	Likely benign (-)
8-94827773-C-T			Likely benign (May 09, 2018)
8-94827774-G-A		not specified	Uncertain significance (Jun 30, 2022)
8-94829015-A-G		not specified	Uncertain significance (Sep 28, 2022)
8-94832018-T-G		not specified	Uncertain significance (Aug 01, 2024)
8-94832137-C-T		not specified	Uncertain significance (Nov 14, 2023)
8-94832142-T-A		not specified	Uncertain significance (Jun 07, 2024)
8-94832152-A-C		not specified	Uncertain significance (Dec 21, 2023)
8-94832157-G-A		not specified	Uncertain significance (Oct 16, 2023)
8-94838474-A-G		INTS8-related disorder	Likely benign (-)
8-94838494-A-G		Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	Pathogenic (Sep 11, 2019)
8-94838502-C-T		not specified	Uncertain significance (Mar 16, 2022)
8-94838545-C-T		not specified	Uncertain significance (Apr 07, 2023)
8-94838590-A-G		not specified	Uncertain significance (Nov 14, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INTS8	protein_coding	protein_coding	ENST00000523731	27	68436

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.944	0.0561	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.03	384	513	0.748	0.0000253	6523
Missense in Polyphen		120	201.16	0.59653		2587
Synonymous	-0.0832	182	181	1.01	0.00000922	1841
Loss of Function	5.88	12	62.0	0.194	0.00000326	755

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000622	0.0000615
Ashkenazi Jewish	0.000107	0.0000992
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000134	0.000132
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes.
• Pathway: Gene expression (Transcription);RNA polymerase II transcribes snRNA genes;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• rvis_EVS: -0.57
• rvis_percentile_EVS: 18.9

Haploinsufficiency Scores

• pHI: 0.150
• hipred: Y
• hipred_score: 0.694
• ghis: 0.587

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.772

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ints8

Gene ontology

• Biological process: snRNA processing;snRNA 3'-end processing;snRNA transcription by RNA polymerase II
• Cellular component: nucleoplasm;integrator complex
• Molecular function: protein binding