MICOS10-NBL1

MICOS10-NBL1 readthrough

Basic information

Region (hg38): 1:19597067-19656927

Previous symbols: [ "MINOS1-NBL1" ]

Links

ENSG00000270136NCBI:100532736HGNC:48338GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MICOS10-NBL1 gene.

  • Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MICOS10-NBL1 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.

EffectPLPVUSLBBSum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 1 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MICOS10-NBL1protein_codingprotein_codingENST00000602662 361077
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.02870.814125701081257090.0000318
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.53611050.5800.000005841173
Missense in Polyphen1744.7980.37948503
Synonymous0.7564046.60.8590.00000319354
Loss of Function1.0935.830.5152.48e-766

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00008860.0000886
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003680.0000352
Middle Eastern0.000.00
South Asian0.000.00
Other0.0001670.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process.;
Pathway
TGF-beta signaling pathway - Homo sapiens (human) (Consensus)

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.180
ghis

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
Cellular component
mitochondrion;MICOS complex
Molecular function