AutismKB 2.0

Annotation Detail for NEB


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Basic Information Top
Gene Symbol:NEB ( DKFZp686C1456,FLJ11505,FLJ36536,FLJ39568,FLJ39584,NEB177D,NEM2 )
Gene Full Name: nebulin
Band: 2q23.3
Quick LinksEntrez ID:4703; OMIM: 161650; Uniprot ID:NEBU_HUMAN; ENSEMBL ID: ENSG00000183091; HGNC ID: 7720
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
7Phosphotyrosine(EGFR)HMM predict
7Phosphotyrosine(INSR)HMM predict
7Phosphotyrosine(Syk)HMM predict
7SulfotyrosineHMM predict
20Phosphotyrosine(EGFR)HMM predict
20Phosphotyrosine(SRC)HMM predict
20Phosphotyrosine(Abl)HMM predict
20Phosphotyrosine(Syk)HMM predict
36O-linkedHMM predict
39O-linkedHMM predict
42Phosphotyrosine(EGFR)HMM predict
48Phosphoserine(CK1)HMM predict
113Phosphotyrosine(Jak)HMM predict
119Phosphothreonine(CDC2)HMM predict
119Phosphothreonine(MAPK)HMM predict
119Phosphothreonine(CDK)HMM predict
222N-linkedHMM predict
277Phosphotyrosine(Syk)HMM predict
281Phosphotyrosine(INSR)HMM predict
306N-linkedHMM predict
352Phosphotyrosine(INSR)HMM predict
352Phosphotyrosine(Syk)HMM predict
387Phosphotyrosine(INSR)HMM predict
391Phosphotyrosine(Syk)HMM predict
422Phosphotyrosine(Syk)HMM predict
458Phosphotyrosine(INSR)HMM predict
458Phosphotyrosine(Syk)HMM predict
503Phosphothreonine(PKA)HMM predict
601Phosphotyrosine(INSR)HMM predict
601Phosphotyrosine(Jak)HMM predict
601Phosphotyrosine(Syk)HMM predict
629N-linkedHMM predict
639Phosphotyrosine(Syk)HMM predict
663N-linkedHMM predict
669Phosphotyrosine(Syk)HMM predict
705Phosphotyrosine(Syk)HMM predict
709Phosphotyrosine(Syk)HMM predict
750Phosphothreonine(PKA)HMM predict
848Phosphotyrosine(Jak)HMM predict
848Phosphotyrosine(Syk)HMM predict
860Phosphoserine(CK2)HMM predict
876N-linkedHMM predict
886Phosphotyrosine(Jak)HMM predict
886Phosphotyrosine(Syk)HMM predict
948Phosphotyrosine(Syk)HMM predict
952SulfotyrosineHMM predict
984Phosphotyrosine(EGFR)HMM predict
1088Phosphotyrosine(Syk)HMM predict
1092Phosphotyrosine(INSR)HMM predict
1092Phosphotyrosine(Jak)HMM predict
1092Phosphotyrosine(Syk)HMM predict
1114Phosphotyrosine(INSR)HMM predict
1126Phosphotyrosine(Syk)HMM predict
1130Phosphotyrosine(Jak)HMM predict
1130Phosphotyrosine(Syk)HMM predict
1168SulfotyrosineHMM predict
1192Phosphotyrosine(Syk)HMM predict
1196Phosphotyrosine(Syk)HMM predict
1196SulfotyrosineHMM predict
1228Phosphotyrosine(EGFR)HMM predict
1273Phosphothreonine(PKA)HMM predict
1336Phosphotyrosine(Jak)HMM predict
1336Phosphotyrosine(Syk)HMM predict
1358Phosphotyrosine(INSR)HMM predict
1370Phosphotyrosine(INSR)HMM predict
1374Phosphotyrosine(INSR)HMM predict
1374Phosphotyrosine(Jak)HMM predict
1374Phosphotyrosine(Syk)HMM predict
1420Phosphoserine(CK1)HMM predict
1436Phosphotyrosine(Syk)HMM predict
1440Phosphotyrosine(EGFR)HMM predict
1440Phosphotyrosine(Syk)HMM predict
1472Phosphotyrosine(EGFR)HMM predict
1472Phosphotyrosine(Abl)HMM predict
1534N-linkedHMM predict
1576Phosphotyrosine(Syk)HMM predict
1580Phosphotyrosine(Syk)HMM predict
1602Phosphotyrosine(INSR)HMM predict
1614Phosphotyrosine(INSR)HMM predict
1616MethyllysineHMM predict
1618Phosphotyrosine(Jak)HMM predict
1618Phosphotyrosine(Syk)HMM predict
1640Phosphoserine(PKG)HMM predict
1656SulfotyrosineHMM predict
1858Phosphotyrosine(INSR)HMM predict
1862Phosphotyrosine(Jak)HMM predict
1862Phosphotyrosine(Syk)HMM predict
1871Phosphothreonine(CDC2)HMM predict
1884Phosphoserine(PKG)HMM predict
1924Phosphotyrosine(Syk)HMM predict
1928Phosphotyrosine(Syk)HMM predict
1928SulfotyrosineHMM predict
2102Phosphotyrosine(INSR)HMM predict
2106Phosphotyrosine(INSR)HMM predict
2106Phosphotyrosine(Jak)HMM predict
2106Phosphotyrosine(Syk)HMM predict
2131N-linkedHMM predict
2134N-linkedHMM predict
2136N-linkedHMM predict
2168Phosphotyrosine(Syk)HMM predict
2168SulfotyrosineHMM predict
2172Phosphotyrosine(Syk)HMM predict
2172SulfotyrosineHMM predict
2182Phosphoserine(IKK)HMM predict
2204Phosphotyrosine(EGFR)HMM predict
2217Phosphothreonine(PKA)HMM predict
2263N-linkedHMM predict
2267Phosphotyrosine(Abl)HMM predict
2346Phosphotyrosine(Syk)HMM predict
2447Phosphotyrosine(Abl)HMM predict
2474N-linkedHMM predict
2519Phosphotyrosine(Syk)HMM predict
2527Phosphotyrosine(INSR)HMM predict
2589Phosphotyrosine(Syk)HMM predict
2682Phosphothreonine(PKA)HMM predict
2690Phosphotyrosine(Abl)HMM predict
2798Phosphotyrosine(Syk)HMM predict
2832Phosphotyrosine(Syk)HMM predict
2925Phosphothreonine(PKA)HMM predict
2933Phosphotyrosine(Syk)HMM predict
2943Phosphothreonine(PKA)HMM predict
2948Phosphoserine(CK1)HMM predict
2948Phosphoserine(IKK)HMM predict
2995N-linkedHMM predict
3001Phosphotyrosine(SRC)HMM predict
3013Phosphotyrosine(INSR)HMM predict
3041Phosphotyrosine(Syk)HMM predict
3075Phosphotyrosine(Syk)HMM predict
3110SulfotyrosineHMM predict
3141Phosphotyrosine(Syk)HMM predict
3176Phosphotyrosine(EGFR)HMM predict
3176Phosphotyrosine(Syk)HMM predict
3186Phosphothreonine(PKA)HMM predict
3191Phosphoserine(CK1)HMM predict
3191Phosphoserine(IKK)HMM predict
3238N-linkedHMM predict
3256Phosphotyrosine(INSR)HMM predict
3318Phosphotyrosine(Syk)HMM predict
3325Phosphotyrosine(Syk)HMM predict
3327Phosphothreonine(PKC)HMM predict
3329Phosphotyrosine(INSR)HMM predict
3331Phosphoserine(CDC2)HMM predict
3353SulfotyrosineHMM predict
3425Phosphothreonine(PKC)HMM predict
3434Phosphothreonine(MAPK)HMM predict
3494Phosphoserine(CK1)HMM predict
3527Phosphotyrosine(Syk)HMM predict
3561Phosphotyrosine(Jak)HMM predict
3561Phosphotyrosine(Syk)HMM predict
3596SulfotyrosineHMM predict
3770Phosphotyrosine(Syk)HMM predict
3782Phosphoserine(CK2)HMM predict
3804Phosphotyrosine(Jak)HMM predict
3804Phosphotyrosine(Syk)HMM predict
3905Phosphotyrosine(Abl)HMM predict
4112Phosphotyrosine(Syk)HMM predict
4127N-linkedHMM predict
4133N-linkedHMM predict
4155N-linkedHMM predict
4185N-linkedHMM predict
4226Phosphotyrosine(Jak)HMM predict
4292Phosphotyrosine(Syk)HMM predict
4354Phosphotyrosine(Syk)HMM predict
4399N-linkedHMM predict
4418N-linkedHMM predict
4438Phosphoserine(CDC2)HMM predict
4438Phosphoserine(ATM)HMM predict
4499Phosphotyrosine(Syk)HMM predict
4535MethyllysineHMM predict
4537Phosphotyrosine(Syk)HMM predict
4599Phosphotyrosine(Syk)HMM predict
4663N-linkedHMM predict
4716Phosphotyrosine(INSR)HMM predict
4724Phosphoserine(CK1)HMM predict
4744Phosphotyrosine(Syk)HMM predict
4804Phosphoserine(PKG)HMM predict
4836Phosphothreonine(PKA)HMM predict
4899Phosphotyrosine(SRC)HMM predict
4978Phosphotyrosine(INSR)HMM predict
4989Phosphotyrosine(Syk)HMM predict
5014N-linkedHMM predict
5137Phosphotyrosine(Jak)HMM predict
5143Phosphothreonine(MAPK)HMM predict
5178Phosphothreonine(MAPK)HMM predict
5201Phosphothreonine(PKC)HMM predict
5211N-linkedHMM predict
5235Phosphotyrosine(Syk)HMM predict
5260N-linkedHMM predict
5279Phosphothreonine(PKC)HMM predict
5293Phosphothreonine(PKA)HMM predict
5293Phosphothreonine(PKC)HMM predict
5305Phosphotyrosine(INSR)HMM predict
5305Phosphotyrosine(Syk)HMM predict
5362N-linkedHMM predict
5410Phosphotyrosine(Syk)HMM predict
5445Phosphotyrosine(Jak)HMM predict
5458Phosphothreonine(MAPK)HMM predict
5488Phosphotyrosine(INSR)HMM predict
5489Phosphothreonine(PKA)HMM predict
5512Phosphotyrosine(Syk)HMM predict
5519N-linkedHMM predict
5522N-linkedHMM predict
5539Phosphotyrosine(Jak)HMM predict
5561Phosphothreonine(CDC2)HMM predict
5578Phosphoserine(CK2)HMM predict
5582SulfotyrosineHMM predict
5634Phosphothreonine(MAPK)HMM predict
5749Phosphothreonine(PKA)HMM predict
5817Phosphotyrosine(Syk)HMM predict
5857N-linkedHMM predict
5871Phosphotyrosine(Jak)HMM predict
5906Phosphotyrosine(Syk)HMM predict
5928Phosphoserine(PKG)HMM predict
5949N-linkedHMM predict
6001N-linkedHMM predict
6007N-linkedHMM predict
6029N-linkedHMM predict
6039N-linkedHMM predict
6041Phosphothreonine(PKA)HMM predict
6059N-linkedHMM predict
6084Phosphotyrosine(Syk)HMM predict
6095Phosphotyrosine(Syk)HMM predict
6136Phosphothreonine(MAPK)HMM predict
6148N-linkedHMM predict
6176Phosphothreonine(PKC)HMM predict
6207Phosphothreonine(PKC)HMM predict
6229Phosphothreonine(MAPK)HMM predict
6241N-linkedHMM predict
6260Phosphothreonine(MAPK)HMM predict
6260Phosphothreonine(CDK)HMM predict
6272N-linkedHMM predict
6291Phosphothreonine(CDC2)HMM predict
6291Phosphothreonine(MAPK)HMM predict
6291Phosphothreonine(CDK)HMM predict
6322Phosphothreonine(MAPK)HMM predict
6322Phosphothreonine(CDK)HMM predict
6348Phosphothreonine(MAPK)HMM predict
6350Phosphothreonine(CDK)HMM predict
6353Phosphothreonine(MAPK)HMM predict
6365N-linkedHMM predict
6379Phosphothreonine(MAPK)HMM predict
6381Phosphothreonine(CDK)HMM predict
6384Phosphothreonine(CDC2)HMM predict
6384Phosphothreonine(MAPK)HMM predict
6384Phosphothreonine(CDK)HMM predict
6429Phosphothreonine(PKC)HMM predict
6434Phosphoserine(PKG)HMM predict
6450PhosphothreonineHMM predict
6538Phosphoserine(IKK)HMM predict
6542Phosphoserine(IKK)HMM predict
6545Phosphoserine(CK1)HMM predict
6553Phosphoserine(CK2)HMM predict
6556Phosphoserine(CK2)HMM predict
6593O-linkedHMM predict
6593Phosphoserine(CK1)HMM predict
6593Phosphoserine(IKK)HMM predict
6600O-linkedHMM predict
6602O-linkedHMM predict
6649Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004543
  • Location:chr2 152050100-152299234
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 152315591 152315620 29 16371
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 152046376 152046408 32 3709
Oct1 HelaGSE14283 152046377 152046408 31 3708
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 152198051 152198215 164 0
CTCF CD4SISSRdata 152198051 152198215 164 0
CTCF G2GSE9613 152145151 152145820 669 0
CTCF G2GSE9613 152155965 152156748 783 0
CTCF G2GSE9613 152166555 152167337 782 0
CTCF G2GSE9613 152202120 152202298 178 0
ER Fulvestrant-MCF7GSE14664 152105069 152105121 52 0
ER MCF7GSE19013 152184218 152184807 589 0
Fos K562GSE19551 152179354 152180048 694 0
KLF4 hESGSE17917 152229063 152229625 562 0
Myc hESGSE17917 152128499 152128805 306 0
Oct1 H2O2-HelaGSE14283 152053766 152053793 27 0
Oct1 H2O2-HelaGSE14283 152198637 152198665 28 0
Oct1 H2O2-HelaGSE14283 152203565 152203605 40 0
Oct1 HelaGSE14283 152059260 152059323 63 0
Oct1 HelaGSE14283 152063981 152064027 46 0
Oct1 HelaGSE14283 152095959 152096004 45 0
Oct1 HelaGSE14283 152100906 152100971 65 0
Oct1 HelaGSE14283 152109419 152109460 41 0
Oct1 HelaGSE14283 152134375 152134408 33 0
Oct1 HelaGSE14283 152141121 152141154 33 0
Oct1 HelaGSE14283 152165338 152165403 65 0
Oct1 HelaGSE14283 152198626 152198665 39 0
RNAII Tamoxifen-MCF7GSE14664 152268314 152268404 90 0
TAF k562GSE8489 152269661 152269875 214 0
TAF k562GSE8489 152272666 152273119 453 0
TFAP2C MCF7GSE21234 152073117 152073599 482 0
hScc1 BcellGSE12603 152145378 152145789 411 0
hScc1 BcellGSE12603 152155965 152156400 435 0
hScc1 BcellGSE12603 152166555 152166953 398 0
hScc1 BcellGSE12603 152259178 152259314 136 0
hScc1 CdLSGSE12603 152145414 152145849 435 0
hScc1 CdLSGSE12603 152155965 152156400 435 0
hScc1 G2GSE9613 152166640 152166953 313 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
15131 HTC RIF1 chr2 152146721 152190033 56 mRNA NEB chr2 152167362 152416454Sense/Antisense (SA) pairs
15342 mRNA NEB chr2 179314697 179314953 256 mRNA TTN chr2 179216226 179497655Sense/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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