JAKMIP2

janus kinase and microtubule interacting protein 2

Basic information

Region (hg38): 5:147585438-147782775

Links

ENSG00000176049 ∙ NCBI:9832 ∙ OMIM:611197 ∙ HGNC:29067 ∙ Uniprot:Q96AA8 ∙ 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 JAKMIP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the JAKMIP2 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			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	0

Variants in JAKMIP2

This is a list of pathogenic ClinVar variants found in the JAKMIP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-147617933-T-A		not specified	Uncertain significance (Aug 21, 2023)
5-147629734-G-A		not specified	Uncertain significance (Oct 16, 2023)
5-147632750-C-T		not specified	Uncertain significance (Apr 25, 2022)
5-147639666-G-A		not specified	Uncertain significance (Dec 01, 2022)
5-147640785-G-C		not specified	Uncertain significance (Jan 23, 2024)
5-147644084-G-T		not specified	Uncertain significance (Feb 06, 2024)
5-147644158-T-C		not specified	Uncertain significance (Mar 11, 2024)
5-147644171-G-T		not specified	Uncertain significance (Sep 20, 2023)
5-147644944-T-C		not specified	Uncertain significance (Dec 19, 2022)
5-147648391-A-T		not specified	Uncertain significance (Dec 28, 2022)
5-147648393-C-T		not specified	Uncertain significance (Dec 20, 2023)
5-147648448-T-C		not specified	Uncertain significance (Mar 21, 2024)
5-147648469-C-A		not specified	Uncertain significance (Jun 03, 2022)
5-147650351-T-A		not specified	Uncertain significance (Jun 07, 2024)
5-147650405-T-C		not specified	Uncertain significance (Dec 19, 2023)
5-147650538-T-C		not specified	Uncertain significance (Feb 09, 2023)
5-147661175-T-C		not specified	Uncertain significance (Oct 26, 2021)
5-147661191-T-G		not specified	Uncertain significance (May 31, 2023)
5-147661210-C-T		not specified	Uncertain significance (Aug 10, 2021)
5-147661399-C-T		not specified	Uncertain significance (Dec 20, 2023)
5-147661411-G-A		not specified	Uncertain significance (Sep 22, 2021)
5-147671761-T-C		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
JAKMIP2	protein_coding	protein_coding	ENST00000265272	20	194349

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000478	125728	0	4	125732	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.36	236	433	0.545	0.0000247	5361
Missense in Polyphen		95	204.78	0.46391		2661
Synonymous	-0.264	165	161	1.03	0.00000926	1447
Loss of Function	6.16	4	51.9	0.0770	0.00000282	609

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000546	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000879
Middle Eastern	0.0000546	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.122
• rvis_EVS: -1.2
• rvis_percentile_EVS: 5.76

Haploinsufficiency Scores

• pHI: 0.663
• hipred: Y
• hipred_score: 0.774
• ghis: 0.634

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.806

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Jakmip2

Gene ontology

• Cellular component: Golgi apparatus
• Molecular function: protein binding;microtubule binding;kinase binding