Berlin Institute of Health

1 gene found

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Position:
21:25880550-26171128 (GRCh )

Gene Summaries
 
ClinVar:
26 pathogenic or likely pathogenic variants in ClinVar.
Gene constraints:
synonymous: 0.388   missense: 2.252   LOF: 0.999   (from gnomAD)
 
 
 
Domains
 
Interactions (STRING): ENSP00000284981
HTT
score: 860 database
IL6
score: 619 database
FUS
score: 517 database
CD4
score: 408 database
LEP
score: 407 database
IL4
score: 402 database
 




Data Updates
entity last update (YYYY-MM-DD)
ClinVar 2022-09-13
ClinVar (likely) pathogenic variants 2024-12-27
Ensembl protein families 2023-08-17
Ensembl:Genbank (Biomart) 2024-12-02
Ensembl:Genbank (MANE) 2024-12-02
Entrez gene RIFS 2024-10-18
Entrez gene history 2024-10-18
Entrez gene positions 2024-10-18
Entrez gene synonyms 2024-10-18
Entrez genes 2024-10-18
Gene Ontology 2023-08-06
HPO 2023-10-12
HPO / OMIM 2023-10-12
HPO / Orphanet 2023-10-12
HPO / genes 2023-10-11
Interpro protein domains 2023-08-17
MGD/OMIM 2023-06-28
MGD/broad phenotypes 2023-07-05
NCBI Entrez gene/Ensembl (Enseml Biomart) 2024-12-02
NCBI Entrez gene/Ensembl (HGNC) 2024-12-02
NCBI Entrez gene/Ensembl (MANE) 2024-12-02
NCBI Entrez gene/Ensembl (NCBI gene2ensembl) 2024-12-02
OMIM 2023-08-02
Orphanet 2023-08-23
Orphanet:HPO frequencies 2023-08-23
Pfam 2023-08-17
STRING (v12) 2023-08-13
Swissprot/Uniprot IDs 2023-08-17
gnomAD gene constraints 2024-04-10