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| Type | IDunfold_more | Version | Total size | Summary |
|---|---|---|---|---|
| samocha_enrichment_background | 0 | 1.38 MB | SamochaEtAl2014 Enrichment Background Model | |
| gene_score | 0 | 7.81 MB | Probability of a gene to be associated with autism | |
| gene_score | 0 | 594.71 KB | Gene vulnerability/intolerance score based on the rare LGD variants | |
| gene_score | 0 | 13.2 MB | Degree of intolerance to predicted Loss-of-Function (pLoF) variation | |
| gene_score | 0 | 523.36 KB | Residual Variation Intolerance Score | |
| gene_score | 0 | 156.14 KB | SFARI gene score release 01-13-2021 | |
| gene_score | 0 | 202.88 KB | SFARI gene score 2024 Q1 release | |
| gene_score | 0 | 624.8 KB | TADA derived gene-autism association score | |
| gene_score | 0 | 921.44 KB | Probability of Loss-of-Function Intolerance | |
| gene_score | 0 | 914.92 KB | Probability of biallelic loss-of-function intolerance | |
| gene_set_collection | 0 | 114.86 MB | GO terms 2025-07-22 release | |
| gene_set_collection | 0 | 4.8 MB | MSigDB (Molecular Signatures Database) gene sets derived from a variety of curated sources | |
| gene_set_collection | 0 | 3.4 MB | PFAM 37.0 domains | |
| gene_set_collection | 0 | 38.92 KB | Autism gene sets derived from publications | |
| gene_set_collection | 0 | 1.64 MB | miRNA target sets | |
| gene_set_collection | 0 | 137.57 KB | miRNA target sets by Darnell | |
| gene_set_collection | 0 | 145.13 KB | Variety of gene sets with potential relevance to autism | |
| gene_set_collection | 0 | 44.64 KB | SFARI gene sets with relevance to autism | |
| gene_set_collection | 0 | 32.38 KB | SPARK gene sets with relevance to autism | |
| genome | 0 | 2.94 GB | HG19 reference genome | |
| allele_score | 0 | 2.26 GB | MPC (Missense badness, PolyPhen-2, and Constraint) is a composite score that predicts the impact of missense variants. | |
| cnv_collection | 0 | 109.39 KB | De novo CNVs from SSC and AGRE WGS | |
| cnv_collection | 0 | 50.94 KB | SFARI_Gene CNV collection | |
| gene_score | 0 | 393.04 KB | Coding length enrichment background based on GENCODE v49 basic PRI gene models for HG38 | |
| gene_score | 0 | 195.12 KB | Ultra rare synonymous enrichment background build from AGRE WGS CSHL. | |
| gene_score | 0 | 219.2 KB | Ultra rare synonymous enrichment background build from SPARK iWES v2. | |
| gene_score | 0 | 216.41 KB | Ultra rare synonymous enrichment background build from SPARK iWGS v1.1. | |
| gene_score | 0 | 117.58 KB | Ultra rare synonymous enrichment background build from SFARI SSC WES CSHL liftover. | |
| gene_score | 0 | 209.8 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. | |
| gene_score | 0 | 208.53 KB | Ultra rare synonymous enrichment background build from SFARI SSC WGS NYGC. | |
| gene_models | 0 | 80.53 MB | GENCODE 49, basic gene annotation on the primary assembly (chromosomes and scaffolds) sequence regions | |
| gene_models | 0 | 10.89 MB | MANE gene model version 1.4 | |
| genome | 0 | 3.95 GB | Nucleotide sequence of the GRCh38.p14 genome assembly | |
| allele_score | 0 | 1.17 GB | Functional impact of mutations on protein function | |
| allele_score | 0 | 81.47 GB | CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP | |
| allele_score | 0 | 479.63 MB | Measure used to assess the clinical significance of genetic variants | |
| allele_score | 0 | 14.01 GB | dbSNP: A public database of genetic variations for research and clinical use. | |
| position_score | 0 | 5.48 GB | Conservation score based on the multiple alignment of 100 species | |
| position_score | 0 | 6.63 GB | Conservation score based on the multiple alignment of 20 species | |
| position_score | 0 | 6.59 GB | Conservation score based on the multiple alignment of 30 species | |
| position_score | 0 | 7.19 GB | Conservation score based on the multiple alignment of 7 species | |
| position_score | 0 | 9.19 GB | Conservation score based on the multiple alignment of 100 species | |
| position_score | 0 | 7.33 GB | Conservation score based on the multiple alignment of 20 species | |
| position_score | 0 | 7.82 GB | Conservation score based on the multiple alignment of 30 species | |
| position_score | 0 | 5.25 GB | Conservation score based on the multiple alignment of 7 species | |
| allele_score | 0 | 783.71 MB | Exported from SFARI_SSC_WGS_CSHL using `gpf_validation_data/data_hg38/exports/SFARI_SSC_WGS_CSHL_frequency`. | |
| allele_score | 0 | 1.32 GB | gnomAD v4.1.0 exome variants (ALL) | |
| allele_score | 0 | 10.47 GB | gnomAD v4.1.0 genome variants (ALL) | |
| liftover_chain | 0 | 2.4 MB | Liftover Chain Hg38 to Hg19 | |
| annotation_pipeline | 0 | 3.5 KB | GPF SFARI Annotation Pipeline |