JKAMP

JNK1/MAPK8 associated membrane protein

Basic information

Region (hg38): 14:59484443-59505410

Previous symbols: [ "C14orf100" ]

Links

ENSG00000050130 ∙ NCBI:51528 ∙ OMIM:611176 ∙ HGNC:20184 ∙ Uniprot:Q9P055 ∙ 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 JKAMP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the JKAMP 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	15	0	0

Variants in JKAMP

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

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

Position	Type	Phenotype	Significance	ClinVar
14-59486728-C-G		not specified	Uncertain significance (Jan 27, 2022)
14-59486743-T-G		not specified	Uncertain significance (Nov 03, 2023)
14-59487743-T-A		not specified	Uncertain significance (May 09, 2022)
14-59495020-C-A		not specified	Uncertain significance (Dec 14, 2023)
14-59495041-T-C		not specified	Uncertain significance (Aug 23, 2021)
14-59495118-C-T		not specified	Uncertain significance (Jun 18, 2024)
14-59495119-G-A		not specified	Uncertain significance (Jan 08, 2024)
14-59498738-T-C		not specified	Uncertain significance (Jun 30, 2023)
14-59498878-G-A		not specified	Uncertain significance (Nov 18, 2022)
14-59498885-A-G		not specified	Uncertain significance (May 20, 2024)
14-59501196-G-A		not specified	Uncertain significance (Jan 24, 2024)
14-59501263-T-C		not specified	Uncertain significance (Mar 01, 2023)
14-59504031-G-A		not specified	Uncertain significance (Feb 28, 2024)
14-59504056-G-C		not specified	Uncertain significance (May 08, 2023)
14-59504062-A-G		not specified	Uncertain significance (Oct 21, 2021)
14-59505279-G-T		not specified	Uncertain significance (Dec 28, 2022)
14-59505301-T-C		not specified	Uncertain significance (Jul 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
JKAMP	protein_coding	protein_coding	ENST00000261247	7	20968

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0765	0.921	124644	0	8	124652	0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.55	108	164	0.660	0.00000822	1986
Missense in Polyphen		25	60.352	0.41424		749
Synonymous	0.536	55	60.3	0.912	0.00000338	604
Loss of Function	2.69	5	16.9	0.295	9.18e-7	211

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000625	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000445	0.0000442
Middle Eastern	0.0000625	0.0000556
South Asian	0.0000659	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a regulator of the duration of MAPK8 activity in response to various stress stimuli. Facilitates degradation of misfolded endoplasmic reticulum (ER) luminal proteins through the recruitment of components of the proteasome and endoplasmic reticulum-associated degradation (ERAD) system (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.0877

Intolerance Scores

• loftool: 0.487
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.58

Haploinsufficiency Scores

• pHI: 0.0698
• hipred: Y
• hipred_score: 0.719
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Jkamp

Gene ontology

• Biological process: response to unfolded protein;ubiquitin-dependent ERAD pathway
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: ubiquitin protein ligase binding