AutismKB 2.0

Annotation Detail for NBEA


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Basic Information Top
Gene Symbol:NBEA ( BCL8B,LYST2 )
Gene Full Name: neurobeachin
Band: 13q13.3
Quick LinksEntrez ID:26960; OMIM: 604889; Uniprot ID:NBEA_HUMAN; ENSEMBL ID: ENSG00000172915; HGNC ID: 7648
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1529Phosphoserine (By similarity).
Location(AA) Modifications Resource
1529Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
32O-linkedHMM predict
46MethylarginineHMM predict
363N-linkedHMM predict
415Phosphothreonine(PKC)HMM predict
515N-linkedHMM predict
517Phosphoserine(ATM)HMM predict
608Phosphothreonine(CDC2)HMM predict
650SulfotyrosineHMM predict
673Phosphoserine(ATM)HMM predict
806O-linkedHMM predict
808O-linkedHMM predict
808O-linkedHMM predict
854N-linkedHMM predict
901Phosphotyrosine(INSR)HMM predict
901Phosphotyrosine(Jak)HMM predict
932C-linkedHMM predict
935C-linkedHMM predict
965SulfotyrosineHMM predict
980N-linkedHMM predict
988O-linkedHMM predict
989Phosphoserine(ATM)HMM predict
1007Phosphoserine(ATM)HMM predict
1009Phosphoserine(ATM)HMM predict
1011Phosphoserine(CDC2)HMM predict
1011Phosphoserine(CDK)HMM predict
1011Phosphoserine(IKK)HMM predict
1011Phosphoserine(MAPK)HMM predict
1018SulfotyrosineHMM predict
1141N-linkedHMM predict
1163Phosphoserine(CK1)HMM predict
1197O-linkedHMM predict
1201Phosphoserine(CK2)HMM predict
1234Phosphotyrosine(INSR)HMM predict
1247Phosphoserine(CK1)HMM predict
1249Phosphoserine(CK1)HMM predict
1284O-linkedHMM predict
1321O-linkedHMM predict
1321Phosphoserine(CDC2)HMM predict
1409Phosphoserine(CDC2)HMM predict
1409Phosphoserine(CDK)HMM predict
1409Phosphoserine(IKK)HMM predict
1411O-linkedHMM predict
1476S-palmitoylHMM predict
1477S-palmitoylHMM predict
1495N-linkedHMM predict
1510Phosphoserine(IKK)HMM predict
1512O-linkedHMM predict
1514O-linkedHMM predict
1519Phosphothreonine(MAPK)HMM predict
1519Phosphothreonine(CDK)HMM predict
1527N-linkedHMM predict
1529Phosphoserine(CDC2)HMM predict
1589Phosphothreonine(PKA)HMM predict
1594Phosphoserine(CAMK2)HMM predict
1594Phosphoserine(IKK)HMM predict
1594PhosphoserineHMM predict
1606Phosphoserine(CDC2)HMM predict
1606Phosphoserine(MAPK)HMM predict
1641Phosphotyrosine(EGFR)HMM predict
1641Phosphotyrosine(Syk)HMM predict
1658Phosphoserine(CK1)HMM predict
1659Phosphothreonine(MAPK)HMM predict
1669Phosphoserine(CK1)HMM predict
1714Phosphoserine(PKG)HMM predict
1717Phosphoserine(CK1)HMM predict
1717Phosphoserine(IKK)HMM predict
1721N-linkedHMM predict
1725Phosphothreonine(PKC)HMM predict
1736Phosphoserine(ATM)HMM predict
1776Phosphothreonine(PKA)HMM predict
1786Phosphoserine(IKK)HMM predict
1802O-linkedHMM predict
1806O-linkedHMM predict
1811O-linkedHMM predict
1815O-linkedHMM predict
1819O-linkedHMM predict
1832Phosphothreonine(MAPK)HMM predict
1838N-linkedHMM predict
1845O-linkedHMM predict
1847Phosphoserine(CK1)HMM predict
1847Phosphoserine(CK2)HMM predict
1935Phosphoserine(CK1)HMM predict
1935Phosphoserine(IKK)HMM predict
1945Phosphoserine(ATM)HMM predict
2005Phosphoserine(IKK)HMM predict
2060Phosphoserine(ATM)HMM predict
2179SulfotyrosineHMM predict
2233N-linkedHMM predict
2272Phosphoserine(PKA)HMM predict
2272Phosphoserine(PKG)HMM predict
2272Phosphoserine(CAMK2)HMM predict
2284N-linkedHMM predict
2295Phosphoserine(PKG)HMM predict
2327Phosphotyrosine(EGFR)HMM predict
2327Phosphotyrosine(INSR)HMM predict
2370Phosphoserine(ATM)HMM predict
2428Phosphothreonine(CK2)HMM predict
2429Phosphoserine(PKB)HMM predict
2551Phosphothreonine(MAPK)HMM predict
2553Phosphoserine(ATM)HMM predict
2564O-linkedHMM predict
2606Phosphothreonine(PKC)HMM predict
2659N-linkedHMM predict
2660N-linkedHMM predict
2664N-linkedHMM predict
2765N-linkedHMM predict
2830Phosphoserine(PKB)HMM predict
2862N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015678
  • Location:chr13 34414455-35144871
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 34405514 34405835 321 8781
FoxA1 MCF7MACSdata 34405549 34405779 230 8792
NRSF JurkatGSE13047 34398645 34399187 542 15540
NRSF JurkatSISSRdata 34398645 34399035 390 15616
NRSF mAbJurkat 34395222 34395907 685 18891
NRSF mAbJurkat 34397317 34399006 1689 16294
NRSF mAbJurkat 34399539 34401120 1581 14126
NRSF-mono JurkatQuESTdata 34398644 34399065 421 15601
NRSF-poly JurkatQuESTdata 34398627 34399074 447 15605
TFAP2C MCF7GSE21234 34405543 34405758 215 8805
TFAP2C MCF7GSE21234 34413840 34414508 668 282
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 35145284 35145659 375 600
Oct1 HelaGSE14283 35147712 35147740 28 2855
hScc1 BcellGSE12603 35150695 35150851 156 5902
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 34629395 34629568 173 0
CTCF CD4SISSRdata 34629395 34629568 173 0
CTCF G2GSE9613 34586552 34586791 239 0
CTCF G2GSE9613 34619705 34620152 447 0
CTCF G2GSE9613 34723608 34723823 215 0
CTCF G2GSE9613 34934712 34934903 191 0
CTCF G2GSE9613 34950813 34951040 227 0
CTCF G2GSE9613 35102761 35103338 577 0
ER E2-MCF7GSE14664 34741582 34741616 34 0
ER E2-MCF7GSE14664 35081890 35081926 36 0
ER Fulvestrant-MCF7GSE14664 34741580 34741616 36 0
ER Fulvestrant-MCF7GSE14664 35081890 35081952 62 0
FoxA1 MCF7MACSdata 34756052 34756253 201 0
H3K27me3 colorectalcancer 34415901 34416333 432 0
Nanog ESGSE20650 35086851 35087109 258 0
Nanog hESGSE18292 35102925 35103228 303 0
Oct1 H2O2-HelaGSE14283 34557863 34557890 27 0
Oct1 H2O2-HelaGSE14283 34595256 34595288 32 0
Oct1 H2O2-HelaGSE14283 34652471 34652501 30 0
Oct1 H2O2-HelaGSE14283 35081885 35081952 67 0
Oct1 H2O2-HelaGSE14283 35091435 35091496 61 0
Oct1 H2O2-HelaGSE14283 35097365 35097392 27 0
Oct1 HelaGSE14283 34437293 34437325 32 0
Oct1 HelaGSE14283 34438935 34438979 44 0
Oct1 HelaGSE14283 34586011 34586043 32 0
Oct1 HelaGSE14283 34595256 34595288 32 0
Oct1 HelaGSE14283 34627076 34627151 75 0
Oct1 HelaGSE14283 34652469 34652506 37 0
Oct1 HelaGSE14283 34674041 34674075 34 0
Oct1 HelaGSE14283 34702273 34702321 48 0
Oct1 HelaGSE14283 34790291 34790331 40 0
Oct1 HelaGSE14283 34860108 34860139 31 0
Oct1 HelaGSE14283 34860343 34860382 39 0
Oct1 HelaGSE14283 34869753 34869789 36 0
Oct1 HelaGSE14283 34958651 34958686 35 0
Oct1 HelaGSE14283 34989143 34989203 60 0
Oct1 HelaGSE14283 35081896 35081952 56 0
Oct1 HelaGSE14283 35102994 35103036 42 0
Oct1 HelaGSE14283 35121310 35121338 28 0
PAX3-FKHR Rh4GSE19063 34956083 34957115 1032 0
PHF8 293TGSE20725 34413917 34415048 1131 0
RNAII Tamoxifen-MCF7GSE14664 34566023 34566150 127 0
Rb GrowingGSE19898 34414404 34414602 198 0
STAT1 IFNSISSRdata 34861019 34861734 715 0
TAF k562GSE8489 34769328 34769517 189 0
hScc1 BcellGSE12603 34629279 34629643 364 0
hScc1 BcellGSE12603 34636426 34636842 416 0
hScc1 BcellGSE12603 34950627 34950954 327 0
hScc1 BcellGSE12603 35102801 35103128 327 0
hScc1 CdLSGSE12603 34629207 34629679 472 0
hScc1 CdLSGSE12603 34636389 34636878 489 0
hScc1 CdLSGSE12603 35102689 35103128 439 0
p130 QuiescentGSE19898 34818737 34818877 140 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-130a hsa-mir-130a 11 21067317
hsa-miR-130a* hsa-mir-130a 11 21067317
hsa-miR-17 hsa-mir-17 13 21067317
hsa-miR-17* hsa-mir-17 13 21067317
hsa-miR-92a hsa-mir-92a-1 13 21067317
hsa-miR-92a hsa-mir-92a-2 X 21067317
No data
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
7061 mRNA NBEA chr13 34414455 35144872 2445 mRNA MAB21L1 chr13 34946343 34948788 Non-exonic Bidirectional (NOB) 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