Gene table of AP4E1 : adaptor related protein complex 4 epsilon 1 subunit

Gene-disease associations table

Disease IDDisease nameSource of annotation with AP4E1OMIM linkNumber of associated genesgenes
PS184450STUTTERING, FAMILIAL PERSISTENTClinVar, OMIM link to OMIM 2AP4E1, NAGPA
PS303350SPASTIC PARAPLEGIAOMIM link to OMIM 47KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H

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Annotation of the gene AP4E1

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
KEGG pathwayKEGG IDKEGG IC
Lysosomehsa041425.78
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Membrane TraffickingR-HSA-1999915.26
trans-Golgi Network Vesicle BuddingR-HSA-1999926.85
Golgi Associated Vesicle BiogenesisR-HSA-4327227.23
Lysosome Vesicle BiogenesisR-HSA-4327207.85
Clathrin derived vesicle buddingR-HSA-4218376.85
Vesicle-mediated transportR-HSA-56536564.33
Associated GO terms for Molecular function