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Merge pull request #97 from leexgh/grch38-update-hgnc-202410
Update HGNC to 202410 for GRCh38
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name version type id genome_build description url | ||
VEP grch37 mirrored vep grch37 VEP determines the effect of your variants(SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions. https://grch37.ensembl.org/info/docs/tools/vep/index.html | ||
VEP grch38 mirrored vep grch38 VEP determines the effect of your variants(SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions. https://useast.ensembl.org/info/docs/tools/vep/index.html | ||
HGNC 2023-10 mirrored hgnc grch37 The resource for approved human gene nomenclature. Genome Nexus uses HGNC gene symbols in annotation http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/archive/monthly/tsv/ | ||
HGNC 2023-10 mirrored hgnc grch38 The resource for approved human gene nomenclature. Genome Nexus uses HGNC gene symbols in annotation http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/archive/monthly/tsv/ | ||
HGNC 2024-10 mirrored hgnc grch37 The resource for approved human gene nomenclature. Genome Nexus uses HGNC gene symbols in annotation http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/archive/monthly/tsv/ | ||
HGNC 2024-10 mirrored hgnc grch38 The resource for approved human gene nomenclature. Genome Nexus uses HGNC gene symbols in annotation http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/archive/monthly/tsv/ | ||
Cancer Hotspots v2 mirrored cancer_hotspots grch37 A resource for statistically significant mutations in cancer https://www.cancerhotspots.org | ||
Cancer Hotspots v2 mirrored cancer_hotspots grch38 A resource for statistically significant mutations in cancer https://www.cancerhotspots.org | ||
3D Hotspots v2 mirrored 3d_hotspots grch37 A resource for statistically significant mutations clustering in 3d protein structures in cancer https://www.3dhotspots.org/ | ||
3D Hotspots v2 mirrored 3d_hotspots grch38 A resource for statistically significant mutations clustering in 3d protein structures in cancer https://www.3dhotspots.org/ | ||
reVUE https://github.com/knowledgesystems/reVUE-data/blob/main/VUEs.json mirrored revue grch37 A Repository for Variants with Unexpected Effects (VUE) in Cancer https://www.cancerrevue.org/ | ||
Mutation Assessor v3 mirrored mutation_assessor grch37 Mutation Assessor predicts the functional impact of amino-acid substitutions in proteins, such as mutations discovered in cancer or missense polymorphisms. http://mutationassessor.org/r3/ | ||
reVUE https://github.com/knowledgesystems/reVUE-data/blob/main/generated/VUEs.json mirrored revue grch37 A Repository for Variants with Unexpected Effects (VUE) in Cancer https://www.cancerrevue.org/ | ||
My Variant Info Includes many annotation sources, see https://docs.myvariant.info/en/latest/doc/data.html external my_variant_info grch37 MyVariant.info provides simple-to-use REST web services to query/retrieve variant annotation data, aggregated from many popular data resources. https://myvariant.info | ||
My Variant Info Includes many annotation sources, see https://docs.myvariant.info/en/latest/doc/data.html external my_variant_info grch38 MyVariant.info provides simple-to-use REST web services to query/retrieve variant annotation data, aggregated from many popular data resources. https://myvariant.info | ||
ClinVar 20230722 mirrored clinvar grch37 ClinVar aggregates information about genomic variation and its relationship to human health. https://www.ncbi.nlm.nih.gov/clinvar/ | ||
ClinVar 20230722 mirrored clinvar grch38 ClinVar aggregates information about genomic variation and its relationship to human health. https://www.ncbi.nlm.nih.gov/clinvar/ | ||
ClinVar 20250106 mirrored clinvar grch37 ClinVar aggregates information about genomic variation and its relationship to human health. https://www.ncbi.nlm.nih.gov/clinvar/ | ||
ClinVar 20250106 mirrored clinvar grch38 ClinVar aggregates information about genomic variation and its relationship to human health. https://www.ncbi.nlm.nih.gov/clinvar/ | ||
OncoKB v4.24 mirrored oncokb grch37 OncoKB™ is a precision oncology knowledge base that contains biological and clinical information about genomic alterations in cancer. https://www.oncokb.org/ | ||
OncoKB v4.24 mirrored oncokb grch38 OncoKB™ is a precision oncology knowledge base that contains biological and clinical information about genomic alterations in cancer. https://www.oncokb.org/ | ||
PDB latest external pdb grch37 A resource for the three-dimensional structural data of large biological molecules such as proteins and nucleic acids. https://www.rcsb.org/ | ||
PDB latest external pdb grch38 A resource for the three-dimensional structural data of large biological molecules such as proteins and nucleic acids. https://www.rcsb.org/ | ||
xrefs latest external xrefs grch37 Xref endpoint is a lookup of Ensembl Identifiers and retrieve their external references in other databases http://grch37.rest.ensembl.org/ | ||
xrefs latest external xrefs grch38 Xref endpoint is a lookup of Ensembl Identifiers and retrieve their external references in other databases http://grch37.rest.ensembl.org/ | ||
PFAM 32 mirrored pfam grch37 A database of protein families that includes their annotations and multiple sequence alignments generated using hidden Markov models. https://www.ebi.ac.uk/interpro/ | ||
PFAM 32 mirrored pfam grch38 A database of protein families that includes their annotations and multiple sequence alignments generated using hidden Markov models. https://www.ebi.ac.uk/interpro/ | ||
PTM dbPTM 2019 mirrored ptm grch37 A resource for protein post-translational modifications (PTMs). https://awi.cuhk.edu.cn/dbPTM/ | ||
PTM dbPTM 2019 mirrored ptm grch38 A resource for protein post-translational modifications (PTMs). https://awi.cuhk.edu.cn/dbPTM/ | ||
SignalDB https://www.nature.com/articles/s41588-021-00949-1 mirrored signal grch37 The SIGNAL resource integrates germline and somatic alterations identified by clinical sequencing of active cancer patients. https://www.signaldb.org/ | ||
Polyphen-2 2.2.3, release 405c external polyphen grch37 PolyPhen-2 predicts the effect of an amino acid substitution on the structure and function of a protein using sequence homology, Pfam annotations, 3D structures from PDB where available, and a number of other databases and tools (including DSSP, ncoils etc.) http://genetics.bwh.harvard.edu/pph2/ | ||
Polyphen-2 2.2.3, release 405c external polyphen grch38 PolyPhen-2 predicts the effect of an amino acid substitution on the structure and function of a protein using sequence homology, Pfam annotations, 3D structures from PDB where available, and a number of other databases and tools (including DSSP, ncoils etc.) http://genetics.bwh.harvard.edu/pph2/ | ||
Sift 6.2.1 external sift grch37 SIFT predicts whether an amino acid substitution is likely to affect protein function based on sequence homology and the physico-chemical similarity between the alternate amino acids. http://sift.bii.a-star.edu.sg/ | ||
Sift 6.2.1 external sift grch38 SIFT predicts whether an amino acid substitution is likely to affect protein function based on sequence homology and the physico-chemical similarity between the alternate amino acids. http://sift.bii.a-star.edu.sg/ | ||
Mutation Assessor v4 mirrored mutation_assessor grch37 "Mutation Assessor predicts the functional impact of amino-acid substitutions in proteins, such as mutations discovered in cancer or missense polymorphisms." http://mutationassessor.org/r3/ | ||
Mutation Assessor v4 mirrored mutation_assessor grch38 "Mutation Assessor predicts the functional impact of amino-acid substitutions in proteins, such as mutations discovered in cancer or missense polymorphisms." http://mutationassessor.org/r3/ |
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Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -1,8 +1,15 @@ | ||
name version type id description url | ||
VEP grch38 mirrored vep VEP determines the effect of your variants(SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions. https://useast.ensembl.org/info/docs/tools/vep/index.html | ||
HGNC 2023-10 mirrored hgnc The resource for approved human gene nomenclature. Genome Nexus uses HGNC gene symbols in annotation http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/archive/monthly/tsv/ | ||
HGNC 2024-10 mirrored hgnc The resource for approved human gene nomenclature. Genome Nexus uses HGNC gene symbols in annotation http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/archive/monthly/tsv/ | ||
Cancer Hotspots v2 mirrored cancer_hotspots A resource for statistically significant mutations in cancer https://www.cancerhotspots.org | ||
3D Hotspots v2 mirrored 3d_hotspots A resource for statistically significant mutations clustering in 3d protein structures in cancer https://www.3dhotspots.org/ | ||
My Variant Info Includes many annotation sources, see https://docs.myvariant.info/en/latest/doc/data.html external my_variant_info MyVariant.info provides simple-to-use REST web services to query/retrieve variant annotation data, aggregated from many popular data resources. https://myvariant.info | ||
ClinVar 20230722 mirrored clinvar ClinVar aggregates information about genomic variation and its relationship to human health. https://www.ncbi.nlm.nih.gov/clinvar/ | ||
OncoKB v4.24 mirrored oncokb OncoKB™ is a precision oncology knowledge base that contains biological and clinical information about genomic alterations in cancer. https://www.oncokb.org/ | ||
ClinVar 20250106 mirrored clinvar ClinVar aggregates information about genomic variation and its relationship to human health. https://www.ncbi.nlm.nih.gov/clinvar/ | ||
OncoKB v4.24 mirrored oncokb OncoKB™ is a precision oncology knowledge base that contains biological and clinical information about genomic alterations in cancer. https://www.oncokb.org/ | ||
PDB latest external pdb A resource for the three-dimensional structural data of large biological molecules such as proteins and nucleic acids. https://www.rcsb.org/ | ||
xrefs latest external xrefs Xref endpoint is a lookup of Ensembl Identifiers and retrieve their external references in other databases http://grch37.rest.ensembl.org/ | ||
PFAM 32 mirrored pfam A database of protein families that includes their annotations and multiple sequence alignments generated using hidden Markov models. https://www.ebi.ac.uk/interpro/ | ||
PTM dbPTM 2019 mirrored ptm A resource for protein post-translational modifications (PTMs). https://awi.cuhk.edu.cn/dbPTM/ | ||
Polyphen-2 2.2.3, release 405c external polyphen PolyPhen-2 predicts the effect of an amino acid substitution on the structure and function of a protein using sequence homology, Pfam annotations, 3D structures from PDB where available, and a number of other databases and tools (including DSSP, ncoils etc.) http://genetics.bwh.harvard.edu/pph2/ | ||
Sift 6.2.1 external sift SIFT predicts whether an amino acid substitution is likely to affect protein function based on sequence homology and the physico-chemical similarity between the alternate amino acids. http://sift.bii.a-star.edu.sg/ | ||
Mutation Assessor v4 mirrored mutation_assessor Mutation Assessor predicts the functional impact of amino-acid substitutions in proteins, such as mutations discovered in cancer or missense polymorphisms. http://mutationassessor.org/r3/ |
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