Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Seqvars Effects Filters missing fields #1835

Open
Gregoor opened this issue Jul 24, 2024 · 0 comments
Open

Seqvars Effects Filters missing fields #1835

Gregoor opened this issue Jul 24, 2024 · 0 comments
Assignees

Comments

@Gregoor
Copy link
Contributor

Gregoor commented Jul 24, 2024

all the commented out entries are present in the design, but missing in the API. Manuel confirmed that these are still WIP.

Most of them seem to be present here:

class SeqvarsVariantConsequenceChoice(str, Enum):
"""The variant consequence."""
# high impact
# skipped chromosome_number_variation
# skipped exon_loss_variant
#: Frameshift variant
FRAMESHIFT_VARIANT = "frameshift_variant"
#: Rare amino acid variant
RARE_AMINO_ACID_VARIANT = "rare_amino_acid_variant"
#: Splice acceptor variant
SPLICE_ACCEPTOR_VARIANT = "splice_acceptor_variant"
#: Splice donor variant
SPLICE_DONOR_VARIANT = "splice_donor_variant"
#: Start lost
START_LOST = "start_lost"
#: Stop gained
STOP_GAINED = "stop_gained"
#: Stop lost
STOP_LOST = "stop_lost"
# skipped transcript_ablation
# moderate impact
# 3' UTR truncation
THREE_PRIME_UTR_TRUNCATION = "3_prime_UTR_truncation"
# 5' UTR truncation
FIVE_PRIME_UTR_TRUNCATION = "5_prime_UTR_truncation"
#: Conservative inframe deletion
CONSERVATIVE_INFRAME_DELETION = "conservative_inframe_deletion"
#: Conservative inframe insertion
CONSERVATIVE_INFRAME_INSERTION = "conservative_inframe_insertion"
#: Disruptive inframe deletion
DISRUPTIVE_INFRAME_DELETION = "disruptive_inframe_deletion"
#: Disruptive inframe insertion
DISRUPTIVE_INFRAME_INSERTION = "disruptive_inframe_insertion"
#: Missense variant
MISSENSE_VARIANT = "missense_variant"
#: skipped regulatory_region_ablation
#: Splice region variant
SPLICE_REGION_VARIANT = "splice_region_variant"
# skipped TFBS_ablation
# low impact
# skipped 5_prime_UTR_premature_start_codon_gain_variant
#: Initiator codon variant
INITIATOR_CODON_VARIANT = "initiator_codon_variant"
#: Start retained
START_RETAINED = "start_retained"
#: Stop retained variant
STOP_RETAINED_VARIANT = "stop_retained_variant"
#: Synonymous variant
SYNONYMOUS_VARIANT = "synonymous_variant"
# modifier
# skipped 3_prime_UTR_variant
# skipped 5_prime_UTR_variant
# skipped coding_sequence_variant
# skipped conserved_intergenic_variant
# skipped conserved_intron_variant
#: Downstream gene variant
DOWNSTREAM_GENE_VARIANT = "downstream_gene_variant"
# skipped exon_variant
# skipped feature_elongation
# skipped feature_truncation
# skipped gene_variant
# skipped intergenic_variant
#: Intron variant.
INTRON_VARIANT = "intron_variant"
# skipped mature_miRNA_variant
# skipped miRNA
# skipped NMD_transcript_variant
#: Non-coding transcript exon variant
NON_CODING_TRANSCRIPT_EXON_VARIANT = "non_coding_transcript_exon_variant"
#: Non-coding transcript intron variant
NON_CODING_TRANSCRIPT_INTRON_VARIANT = "non_coding_transcript_intron_variant"
#: 5' UTR variant
FIVE_PRIME_UTR_VARIANT = "5_prime_UTR_variant"
#: Coding sequence variant
CODING_SEQUENCE_VARIANT = "coding_sequence_variant"
# skipped regulatory_region_amplification
# skipped regulatory_region_variant
# skipped TF_binding_site_variant
# skipped TFBS_amplification
# skipped transcript_amplification
# skipped transcript_variant
#: Upstream gene variant
UPSTREAM_GENE_VARIANT = "upstream_gene_variant"
#: EXTRA, not directly written by Mehari: 3' UTR variant + exon variant
THREE_PRIME_UTR_VARIANT_EXON_VARIANT = "3_prime_UTR_variant-exon_variant"
#: EXTRA, not directly written by Mehari: 5' UTR variant + exon variant
FIVE_PRIME_UTR_VARIANT_EXON_VARIANT = "5_prime_UTR_variant-exon_variant"
#: EXTRA, not directly written by Mehari: 3' UTR variant + intron_variant
THREE_PRIME_UTR_VARIANT_INTRON_VARIANT = "3_prime_UTR_variant-intron_variant"
#: EXTRA, not directly written by Mehari: 5' UTR variant + intron_variant
FIVE_PRIME_UTR_VARIANT_INTRON_VARIANT = "5_prime_UTR_variant-intron_variant"

Screenshot 2024-07-24 at 14 17 42

Effect groups I also could not find in the API yet

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
Status: No status
Development

No branches or pull requests

2 participants