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Merge pull request #97 from leexgh/grch38-update-hgnc-202410
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Update HGNC to 202410 for GRCh38
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leexgh authored Jan 24, 2025
2 parents 054e1b6 + 455d93f commit d1c3f24
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28 changes: 22 additions & 6 deletions data/common_input/version_info.txt
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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/
2 changes: 1 addition & 1 deletion data/grch37_ensembl92/export/annotation_version.txt
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Expand Up @@ -6,7 +6,7 @@ Cancer Hotspots v2 mirrored cancer_hotspots A resource for statistically signifi
reVUE https://github.com/knowledgesystems/reVUE-data/blob/main/generated/VUEs.json mirrored revue 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 "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 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/
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 32.0 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/
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13 changes: 10 additions & 3 deletions data/grch38_ensembl92/export/annotation_version.txt
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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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