TMEM121B

transmembrane protein 121B

Basic information

Region (hg38): 22:17116297-17121367

Previous symbols: [ "CECR6" ]

Links

ENSG00000183307NCBI:27439HGNC:1844Uniprot:Q9BXQ6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMEM121B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM121B 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
42
clinvar
1
clinvar
43
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 42 1 0

Variants in TMEM121B

This is a list of pathogenic ClinVar variants found in the TMEM121B region.

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

Position Type Phenotype Significance ClinVar
22-17119450-C-T not specified Uncertain significance (Apr 26, 2023)2541130
22-17119461-T-C not specified Uncertain significance (Sep 26, 2023)3178495
22-17119481-C-G not specified Uncertain significance (May 28, 2024)3326679
22-17119485-G-T not specified Uncertain significance (Feb 14, 2023)3178494
22-17119494-G-A not specified Uncertain significance (Oct 20, 2023)3178493
22-17119507-G-A not specified Uncertain significance (Aug 14, 2024)3457553
22-17119540-C-G not specified Uncertain significance (Jul 13, 2022)3178492
22-17119564-C-T not specified Uncertain significance (Jan 08, 2024)3178491
22-17119566-C-T not specified Uncertain significance (Oct 10, 2023)3178490
22-17119651-G-C not specified Uncertain significance (May 10, 2024)3326682
22-17119699-C-T not specified Uncertain significance (Aug 10, 2021)3178489
22-17119764-G-C not specified Uncertain significance (Nov 09, 2024)3457561
22-17119793-C-G not specified Uncertain significance (May 05, 2023)2513709
22-17119837-C-A not specified Uncertain significance (Sep 01, 2024)3457555
22-17119872-G-C not specified Uncertain significance (Dec 06, 2023)3178487
22-17119894-G-C not specified Uncertain significance (Jun 22, 2023)2605649
22-17119915-C-G not specified Uncertain significance (Dec 07, 2024)3457565
22-17119935-C-T not specified Uncertain significance (Nov 17, 2022)3178486
22-17119962-C-A not specified Uncertain significance (May 04, 2022)3178485
22-17119963-G-A not specified Uncertain significance (Sep 04, 2024)3457557
22-17119983-G-A not specified Uncertain significance (Sep 22, 2023)3178484
22-17119984-G-A not specified Uncertain significance (Oct 26, 2022)3178483
22-17119999-G-A not specified Uncertain significance (Aug 31, 2022)3178482
22-17120005-C-T not specified Uncertain significance (May 23, 2023)2552571
22-17120007-C-A not specified Uncertain significance (Jan 04, 2022)3178481

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TMEM121Bprotein_codingprotein_codingENST00000331437 15069
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6990.29700000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.501852520.7340.00001463488
Missense in Polyphen5278.5860.6617842
Synonymous0.8961151280.8990.000007771368
Loss of Function2.3418.250.1213.55e-7102

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
0.927
hipred
hipred_score
ghis
0.416

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Tmem121b
Phenotype