AutismKB 2.0

Annotation Detail for USH2A


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Basic Information Top
Gene Symbol:USH2A ( RP39,US2,USH2,dJ1111A8.1 )
Gene Full Name: Usher syndrome 2A (autosomal recessive, mild)
Band: 1q41
Quick LinksEntrez ID:7399; OMIM: 608400; Uniprot ID:USH2A_HUMAN; ENSEMBL ID: ENSG00000042781; HGNC ID: 12601
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
361N-linked (GlcNAc...) (Potential).
451N-linked (GlcNAc...) (Potential).
587N-linked (GlcNAc...) (Potential).
611N-linked (GlcNAc...) (Potential).
650N-linked (GlcNAc...) (Potential).
697N-linked (GlcNAc...) (Potential).
839N-linked (GlcNAc...) (Potential).
856N-linked (GlcNAc...) (Potential).
862N-linked (GlcNAc...) (Potential).
888N-linked (GlcNAc...) (Potential).
944N-linked (GlcNAc...) (Potential).
1011N-linked (GlcNAc...) (Potential).
1071N-linked (GlcNAc...) (Potential).
1151N-linked (GlcNAc...) (Potential).
1174N-linked (GlcNAc...) (Potential).
1290Phosphothreonine.
1379N-linked (GlcNAc...) (Potential).
1388N-linked (GlcNAc...) (Potential).
1424Phosphoserine.
1479N-linked (GlcNAc...) (Potential).
1635N-linked (GlcNAc...) (Potential).
1779N-linked (GlcNAc...) (Potential).
1903N-linked (GlcNAc...) (Potential).
2011N-linked (GlcNAc...) (Potential).
2014N-linked (GlcNAc...) (Potential).
2048N-linked (GlcNAc...) (Potential).
2130N-linked (GlcNAc...) (Potential).
2182N-linked (GlcNAc...) (Potential).
2195N-linked (GlcNAc...) (Potential).
2258N-linked (GlcNAc...) (Potential).
2285N-linked (GlcNAc...) (Potential).
2322N-linked (GlcNAc...) (Potential).
2377N-linked (GlcNAc...) (Potential).
2382N-linked (GlcNAc...) (Potential).
2407N-linked (GlcNAc...) (Potential).
2413N-linked (GlcNAc...) (Potential).
2581N-linked (GlcNAc...) (Potential).
2584N-linked (GlcNAc...) (Potential).
2656N-linked (GlcNAc...) (Potential).
2710N-linked (GlcNAc...) (Potential).
2770N-linked (GlcNAc...) (Potential).
2788N-linked (GlcNAc...) (Potential).
2930N-linked (GlcNAc...) (Potential).
2937N-linked (GlcNAc...) (Potential).
2970N-linked (GlcNAc...) (Potential).
3032N-linked (GlcNAc...) (Potential).
3064Phosphothreonine.
3071Phosphoserine.
3099N-linked (GlcNAc...) (Potential).
3217N-linked (GlcNAc...) (Potential).
3330N-linked (GlcNAc...) (Potential).
3419N-linked (GlcNAc...) (Potential).
3433N-linked (GlcNAc...) (Potential).
3653N-linked (GlcNAc...) (Potential).
3694N-linked (GlcNAc...) (Potential).
3733N-linked (GlcNAc...) (Potential).
3780N-linked (GlcNAc...) (Potential).
3849N-linked (GlcNAc...) (Potential).
3984N-linked (GlcNAc...) (Potential).
4202N-linked (GlcNAc...) (Potential).
4226N-linked (GlcNAc...) (Potential).
4317N-linked (GlcNAc...) (Potential).
4418N-linked (GlcNAc...) (Potential).
4564N-linked (GlcNAc...) (Potential).
4583N-linked (GlcNAc...) (Potential).
4691N-linked (GlcNAc...) (Potential).
4754N-linked (GlcNAc...) (Potential).
4800N-linked (GlcNAc...) (Potential).
4943N-linked (GlcNAc...) (Potential).
4950N-linked (GlcNAc...) (Potential).
5202PDZ-binding.
Location(AA) Modifications Resource
361N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
451N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
587N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
611N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
650N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
697N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
839N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
856N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
862N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
888N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
944N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1011N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1071N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1151N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1174N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1379N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1388N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1424Phosphoserine.Swiss-Prot 53.0
1424PhosphoserinePhospho.ELM 6.0
1479N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1635N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1779N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1903N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2011N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2014N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2048N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2130N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2182N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2195N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2258N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2285N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2322N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2377N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2382N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2407N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2413N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2581N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2584N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2656N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2710N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2770N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2788N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2930N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2937N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2970N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3032N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3099N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3217N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3330N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3419N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3433N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3653N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3694N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3733N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3780N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3849N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3984N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4202N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4226N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4317N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4418N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4564N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4583N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4691N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4754N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4800N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4943N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4950N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
65PhosphothreonineHMM predict
98O-linkedHMM predict
102O-linkedHMM predict
122Phosphoserine(IKK)HMM predict
137O-linkedHMM predict
138Phosphoserine(CDC2)HMM predict
141Phosphoserine(CDC2)HMM predict
141Phosphoserine(MAPK)HMM predict
141Phosphoserine(IKK)HMM predict
141PhosphoserineHMM predict
243Phosphoserine(IKK)HMM predict
247O-linkedHMM predict
361N-linkedHMM predict
366N-linkedHMM predict
380Phosphotyrosine(SRC)HMM predict
391Phosphoserine(CDC2)HMM predict
406Phosphoserine(CK1)HMM predict
443N-linkedHMM predict
451N-linkedHMM predict
467Phosphotyrosine(INSR)HMM predict
471Phosphotyrosine(Syk)HMM predict
493SulfotyrosineHMM predict
506Phosphotyrosine(Syk)HMM predict
507Phosphotyrosine(Jak)HMM predict
575S-palmitoylHMM predict
611N-linkedHMM predict
616N-linkedHMM predict
669Phosphoserine(PKB)HMM predict
697N-linkedHMM predict
747S-palmitoylHMM predict
847S-palmitoylHMM predict
856N-linkedHMM predict
862N-linkedHMM predict
865Phosphothreonine(PKA)HMM predict
888N-linkedHMM predict
893N-linkedHMM predict
922S-palmitoylHMM predict
944N-linkedHMM predict
1011N-linkedHMM predict
1053Phosphothreonine(CDK)HMM predict
1071N-linkedHMM predict
1075Phosphoserine(IKK)HMM predict
1079Phosphoserine(ATM)HMM predict
1097Phosphotyrosine(INSR)HMM predict
1097SulfotyrosineHMM predict
1121Phosphotyrosine(Jak)HMM predict
1133O-linkedHMM predict
1133O-linkedHMM predict
1151N-linkedHMM predict
1174N-linkedHMM predict
1225O-linkedHMM predict
1237O-linkedHMM predict
1237O-linkedHMM predict
1247Phosphoserine(CDC2)HMM predict
1247Phosphoserine(IKK)HMM predict
1291Phosphoserine(CK2)HMM predict
1307Phosphoserine(IKK)HMM predict
1335Phosphotyrosine(Jak)HMM predict
1377Phosphoserine(CK1)HMM predict
1388N-linkedHMM predict
1410Phosphoserine(PKA)HMM predict
1462Phosphothreonine(PKC)HMM predict
1479N-linkedHMM predict
1500Phosphotyrosine(SRC)HMM predict
1507Phosphoserine(PKG)HMM predict
1508Phosphoserine(PKA)HMM predict
1508Phosphoserine(PKG)HMM predict
1562Phosphoserine(CDC2)HMM predict
1635N-linkedHMM predict
1683N-linkedHMM predict
1826Phosphoserine(ATM)HMM predict
1927Phosphotyrosine(Jak)HMM predict
1950Phosphothreonine(PKA)HMM predict
1956Phosphoserine(IKK)HMM predict
1959O-linkedHMM predict
1959Phosphothreonine(MAPK)HMM predict
1959Phosphothreonine(CDK)HMM predict
2014N-linkedHMM predict
2048N-linkedHMM predict
2066Phosphoserine(IKK)HMM predict
2070Phosphoserine(IKK)HMM predict
2105Phosphotyrosine(INSR)HMM predict
2105Phosphotyrosine(Syk)HMM predict
2130N-linkedHMM predict
2170Phosphoserine(PKG)HMM predict
2182N-linkedHMM predict
2195N-linkedHMM predict
2236Phosphothreonine(CK2)HMM predict
2258N-linkedHMM predict
2285N-linkedHMM predict
2322N-linkedHMM predict
2342Phosphoserine(PKC)HMM predict
2377N-linkedHMM predict
2382N-linkedHMM predict
2407N-linkedHMM predict
2413N-linkedHMM predict
2444O-linkedHMM predict
2444O-linkedHMM predict
2445Phosphoserine(PKB)HMM predict
2447Phosphothreonine(MAPK)HMM predict
2488N-linkedHMM predict
2581N-linkedHMM predict
2584N-linkedHMM predict
2611Phosphoserine(CDC2)HMM predict
2611Phosphoserine(MAPK)HMM predict
2629Phosphoserine(MAPK)HMM predict
2656N-linkedHMM predict
2696Phosphotyrosine(Jak)HMM predict
2710N-linkedHMM predict
2718O-linkedHMM predict
2770N-linkedHMM predict
2777Phosphoserine(ATM)HMM predict
2836Phosphotyrosine(Jak)HMM predict
2881Phosphoserine(CK1)HMM predict
2911Phosphothreonine(CDC2)HMM predict
2911Phosphothreonine(MAPK)HMM predict
2919O-linkedHMM predict
2930N-linkedHMM predict
2937N-linkedHMM predict
2969Phosphoserine(IKK)HMM predict
3032N-linkedHMM predict
3042Phosphoserine(CDC2)HMM predict
3099N-linkedHMM predict
3105O-linkedHMM predict
3109Phosphothreonine(MAPK)HMM predict
3111O-linkedHMM predict
3117O-linkedHMM predict
3198Phosphotyrosine(Abl)HMM predict
3217N-linkedHMM predict
3328Phosphotyrosine(INSR)HMM predict
3330N-linkedHMM predict
3406Phosphoserine(MAPK)HMM predict
3419N-linkedHMM predict
3433N-linkedHMM predict
3439Phosphoserine(PKG)HMM predict
3446Phosphoserine(CK2)HMM predict
3461Phosphotyrosine(Jak)HMM predict
3494Phosphothreonine(PKC)HMM predict
3552Phosphoserine(CK1)HMM predict
3552Phosphoserine(ATM)HMM predict
3579O-linkedHMM predict
3653N-linkedHMM predict
3659O-linkedHMM predict
3687Phosphothreonine(PKC)HMM predict
3694N-linkedHMM predict
3733N-linkedHMM predict
3738N-linkedHMM predict
3776Phosphotyrosine(SRC)HMM predict
3780N-linkedHMM predict
3817Phosphothreonine(MAPK)HMM predict
3833N-linkedHMM predict
3872Phosphoserine(MAPK)HMM predict
3956Phosphoserine(IKK)HMM predict
3984N-linkedHMM predict
4013Phosphoserine(CDC2)HMM predict
4067Phosphoserine(CK1)HMM predict
4157Phosphoserine(ATM)HMM predict
4174Phosphoserine(IKK)HMM predict
4202N-linkedHMM predict
4226N-linkedHMM predict
4317N-linkedHMM predict
4338O-linkedHMM predict
4343O-linkedHMM predict
4348Phosphoserine(IKK)HMM predict
4351O-linkedHMM predict
4360Phosphoserine(IKK)HMM predict
4377Phosphoserine(IKK)HMM predict
4418N-linkedHMM predict
4494Phosphotyrosine(EGFR)HMM predict
4500Phosphothreonine(MAPK)HMM predict
4505Phosphotyrosine(Abl)HMM predict
4510O-linkedHMM predict
4514Phosphoserine(ATM)HMM predict
4520Phosphoserine(MAPK)HMM predict
4528Phosphoserine(MAPK)HMM predict
4528Phosphoserine(IKK)HMM predict
4533O-linkedHMM predict
4533O-linkedHMM predict
4564N-linkedHMM predict
4583N-linkedHMM predict
4587N-linkedHMM predict
4691N-linkedHMM predict
4708Phosphotyrosine(Jak)HMM predict
4830Phosphoserine(IKK)HMM predict
4834Phosphoserine(CDC2)HMM predict
4950N-linkedHMM predict
5023Phosphothreonine(CDC2)HMM predict
5111Phosphothreonine(CDK)HMM predict
5118N-linkedHMM predict
5128Phosphoserine(ATM)HMM predict
5130N-linkedHMM predict
5137Phosphoserine(ATM)HMM predict
5174Phosphotyrosine(INSR)HMM predict
5196PhosphothreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007123
  • Location:chr1 214413916-214663360
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 214461145 214461518 373 0
FOXA1 MCF7GSE15244 214464040 214464561 521 0
Myc hESGSE17917 214415784 214415957 173 0
Nanog ESGSE20650 214422916 214423747 831 0
Nanog hESGSE18292 214628522 214629013 491 0
PAX3-FKHR Rh4GSE19063 214586222 214587103 881 0
SRF HepG2GSE8489 214523833 214524029 196 0
STAT1 IFNSISSRdata 214452801 214453313 512 0
Stat6 IL-4-hr4GSE17850 214639080 214639607 527 0
TAF k562GSE8489 214534124 214534531 407 0
p130 SenescentGSE19898 214533728 214533897 169 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
2338 EST chr1 212634542 212648641 175 mRNA USH2A chr1 212184630 212985133Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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