JAKMIP3

Janus kinase and microtubule interacting protein 3

Basic information

Region (hg38): 10:132036335-132184858

Previous symbols: [ "C10orf39", "C10orf14" ]

Links

ENSG00000188385 ∙ NCBI:282973 ∙ OMIM:611198 ∙ HGNC:23523 ∙ Uniprot:Q5VZ66 ∙ 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 JAKMIP3 gene.

• Inborn genetic diseases (40 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the JAKMIP3 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			40			40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	0	0

Variants in JAKMIP3

This is a list of pathogenic ClinVar variants found in the JAKMIP3 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-132104867-C-T		not specified	Uncertain significance (Feb 10, 2022)
10-132104876-C-T		not specified	Uncertain significance (Jun 01, 2023)
10-132117122-C-T		not specified	Uncertain significance (Dec 14, 2023)
10-132117137-C-T		not specified	Uncertain significance (Dec 16, 2023)
10-132117193-G-A		not specified	Uncertain significance (May 31, 2023)
10-132117219-C-T		not specified	Uncertain significance (Jan 31, 2022)
10-132117270-A-C		not specified	Uncertain significance (Feb 11, 2022)
10-132117275-G-A		not specified	Uncertain significance (Feb 16, 2023)
10-132117285-G-A		not specified	Uncertain significance (Mar 05, 2024)
10-132117320-G-A		not specified	Uncertain significance (Apr 11, 2023)
10-132117428-G-A		not specified	Uncertain significance (Sep 14, 2022)
10-132117443-G-A		not specified	Uncertain significance (Jun 01, 2023)
10-132117459-C-T		not specified	Uncertain significance (Apr 28, 2022)
10-132117469-C-G		not specified	Uncertain significance (Oct 26, 2022)
10-132117537-G-A		not specified	Uncertain significance (Sep 08, 2023)
10-132117567-G-A		not specified	Uncertain significance (Jul 11, 2023)
10-132133366-G-A		not specified	Uncertain significance (Oct 05, 2023)
10-132133388-A-G		not specified	Uncertain significance (Oct 10, 2023)
10-132133471-C-T		not specified	Uncertain significance (Mar 07, 2024)
10-132135066-C-T		not specified	Uncertain significance (Aug 01, 2023)
10-132135081-T-C		not specified	Uncertain significance (Sep 26, 2023)
10-132135131-G-A		not specified	Uncertain significance (Dec 28, 2022)
10-132135141-C-T		not specified	Uncertain significance (Dec 07, 2021)
10-132135937-G-A		not specified	Uncertain significance (Mar 03, 2022)
10-132136030-G-A		not specified	Uncertain significance (Aug 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
JAKMIP3	protein_coding	protein_coding	ENST00000298622	21	80139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0670	0.933	125522	0	122	125644	0.000486

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.32	425	509	0.835	0.0000341	5458
Missense in Polyphen		133	189.09	0.70337		2027
Synonymous	-1.19	243	221	1.10	0.0000162	1556
Loss of Function	5.00	13	51.8	0.251	0.00000262	602

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00114	0.00104
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.00115	0.00111
European (Non-Finnish)	0.000734	0.000608
Middle Eastern	0.000111	0.000109
South Asian	0.000110	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.691
• rvis_EVS: -1.74
• rvis_percentile_EVS: 2.42

Haploinsufficiency Scores

• pHI: 0.238
• hipred: N
• hipred_score: 0.483
• ghis: 0.575

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.197

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Jakmip3

Gene ontology

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