Gene table of PACS1 : phosphofurin acidic cluster sorting protein 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PACS1	OMIM link	Number of associated genes	genes
PS156200	MENTAL RETARDATION, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	44	EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Infectious disease	R-HSA-5663205	4.47
Host Interactions of HIV factors	R-HSA-162909	5.99
HIV Infection	R-HSA-162906	5.22
The role of Nef in HIV-1 replication and disease pathogenesis	R-HSA-164952	8.18
Nef mediated downregulation of MHC class I complex cell surface expression	R-HSA-164940	9.66
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	R-HSA-164938	8.59
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function