INSL6

insulin like 6

Basic information

Region (hg38): 9:5123879-5185647

Links

ENSG00000120210 ∙ NCBI:11172 ∙ OMIM:606414 ∙ HGNC:6089 ∙ Uniprot:Q9Y581 ∙ 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 INSL6 gene.

• not provided (19 variants)
• Inborn genetic diseases (15 variants)
• Budd-Chiari syndrome (6 variants)
• not specified (5 variants)
• Thrombocythemia 3 (2 variants)
• 6 conditions (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INSL6 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				1	1	2
missense			14		1	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding			11	6	5	22
Total	0	0	25	8	7

Variants in INSL6

This is a list of pathogenic ClinVar variants found in the INSL6 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-5126321-GGTTT-G			Uncertain significance (Jan 26, 2023)
9-5126321-G-GC			Conflicting classifications of pathogenicity (Jan 18, 2024)
9-5126343-G-A		not specified • 6 conditions • JAK2-related disorder	Benign/Likely benign (Mar 01, 2024)
9-5126377-C-T			Uncertain significance (Sep 19, 2023)
9-5126378-G-A			Uncertain significance (Nov 27, 2023)
9-5126399-T-C			Likely benign (Oct 08, 2022)
9-5126407-T-C			Benign (Jan 22, 2024)
9-5126410-T-A			Uncertain significance (Sep 21, 2022)
9-5126417-T-C		JAK2-related disorder	Likely benign (Sep 10, 2020)
9-5126424-G-A		not specified	Uncertain significance (May 04, 2022)
9-5126443-T-A		not specified	Benign/Likely benign (Jan 29, 2024)
9-5126452-A-C		JAK2-related disorder	Likely benign (Dec 19, 2023)
9-5126453-A-AT			Benign (Jul 26, 2023)
9-5126454-T-C			Benign (Nov 28, 2023)
9-5126460-T-C			Benign (Oct 19, 2023)
9-5126542-T-G			Benign (Jun 20, 2021)
9-5126684-A-G			Uncertain significance (Aug 04, 2023)
9-5126703-A-C		Thrombocythemia 3	Uncertain significance (-)
9-5126715-A-G		not specified • Thrombocythemia 3	Conflicting classifications of pathogenicity (Jan 29, 2024)
9-5126716-T-G		Inborn genetic diseases	Uncertain significance (Jun 02, 2023)
9-5126729-C-T			Uncertain significance (May 02, 2023)
9-5126758-A-G			Likely benign (Jan 25, 2024)
9-5126770-A-C		JAK2-related disorder	Likely benign (Dec 21, 2023)
9-5126795-A-C		not specified	Benign (Mar 01, 2022)
9-5126879-CATT-C		Budd-Chiari syndrome	Uncertain significance (Jun 14, 2016)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
INSL6	protein_coding	protein_coding	ENST00000381641	2	53690

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.73e-9	0.0286	125401	2	257	125660	0.00103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.45	201	124	1.62	0.00000784	1364
Missense in Polyphen		39	27.522	1.4171		307
Synonymous	-3.20	75	47.1	1.59	0.00000298	405
Loss of Function	-1.11	11	7.67	1.43	3.26e-7	96

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000182	0.000179
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.00	0.00
Finnish	0.00584	0.00556
European (Non-Finnish)	0.00111	0.00110
Middle Eastern	0.00	0.00
South Asian	0.000136	0.000131
Other	0.000671	0.000653

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May have a role in sperm development and fertilization.

Recessive Scores

• pRec: 0.0846

Intolerance Scores

• loftool: 0.408
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.55

Haploinsufficiency Scores

• pHI: 0.0760
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00211

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Insl6
• Phenotype: endocrine/exocrine gland phenotype; cellular phenotype; reproductive system phenotype

Gene ontology

• Biological process: biological_process;regulation of signaling receptor activity
• Cellular component: cellular_component;extracellular region
• Molecular function: hormone activity