full name
EYA transcriptional coactivator and phosphatase 1

synonyms
BOP, BOR, BOS1, EYA1, ENSG00000104313

HGNC
HGNC:3519

Entrez Gene
Gene:2138

ENSEMBL
ENSG00000104313

location
chr: 8
start: 72109668
stop: 72459888
strand: -

OMIM
OMIM:601653: EYA1 (Autosomal dominant inheritance)
OMIM:166780: ?Otofaciocervical syndrome
OMIM:602588: Anterior segment anomalies with or without cataract
OMIM:602588: Branchiootic syndrome 1
OMIM:113650: Branchiootorenal syndrome 1, with or without cataracts

transcripts
NM_000503.4
NM_172060.2
NM_172059.2
NM_172058.2

pathways
DNA Double Strand Break Response [NCBI:1309096] [REACTOME:R-HSA-5693606] [PUBMED:20965415]
DNA Double-Strand Break Repair [NCBI:1309095] [REACTOME:R-HSA-5693532] [PUBMED:12897142] [PUBMED:20965415]
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks [NCBI:1309098] [REACTOME:R-HSA-5693565] [PUBMED:18483401] [PUBMED:21293379] [PUBMED:10866324] [PUBMED:9488723] [PUBMED:18001825] [PUBMED:18006705] [PUBMED:11571274] [PUBMED:12364621] [PUBMED:22234877] [PUBMED:10802669] [PUBMED:17553757] [PUBMED:10550055] [PUBMED:23333306] [PUBMED:20023648] [PUBMED:18077395] [PUBMED:19203578] [PUBMED:22373579] [PUBMED:19203579] [PUBMED:19234442] [PUBMED:16377563] [PUBMED:15201865] [PUBMED:19092802] [PUBMED:17525340] [PUBMED:22589545] [PUBMED:11025670] [PUBMED:16651405] [PUBMED:19001859] [PUBMED:18001824]
Transcriptional misregulation in cancer [NCBI:523016] [KEGG:hsa05202] [PUBMED:17327229] [PUBMED:20190806] [PUBMED:20145147] [PUBMED:11313274] [PUBMED:11863357] [PUBMED:19472090] [PUBMED:18330902] [PUBMED:19738075] [PUBMED:15024077] [PUBMED:12032780] [PUBMED:14630078] [PUBMED:21765642] [PUBMED:19564705] [PUBMED:17101797] [PUBMED:15160934] [PUBMED:15688424] [PUBMED:15985538] [PUBMED:12527902] [PUBMED:12511414] [PUBMED:11607818] [PUBMED:17222504] [PUBMED:15826838] [PUBMED:21747944] [PUBMED:19406209] [PUBMED:10350329] [PUBMED:21779514] [PUBMED:18563191] [PUBMED:16946003] [PUBMED:17250957] [PUBMED:12670461] [PUBMED:12529654] [PUBMED:18855877] [PUBMED:17505060] [PUBMED:20153925] [PUBMED:20490326] [PUBMED:12130514] [PUBMED:18648544] [PUBMED:19855079] [PUBMED:10717473] [PUBMED:20478527] [PUBMED:11340171] [PUBMED:16169901] [PUBMED:14998494] [PUBMED:19233641] [PUBMED:19133982] [PUBMED:12393465] [PUBMED:19059936] [PUBMED:18172298] [PUBMED:10500199] [PUBMED:19141473] [PUBMED:10537274] [PUBMED:15156184] [PUBMED:14701735] [PUBMED:19422821] [PUBMED:21518926] [PUBMED:18850010] [PUBMED:19075677] [PUBMED:18457914] [PUBMED:12527906] [PUBMED:15644444] [PUBMED:10784387] [PUBMED:17024155] [PUBMED:19075268] [PUBMED:15826834] [PUBMED:21849159] [PUBMED:21123453] [PUBMED:20974671] [PUBMED:20863376]