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. These statistics are base on transcript: . Only rare variants are included in the table.

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			17 clinvar			17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	0	0

Loading clinvar variants...

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
Phenotype

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