AutismKB 2.0

Annotation Detail for NRXN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NRXN1 ( DKFZp313P2036,FLJ35941,Hs.22998,KIAA0578,PTHSL2 )
Gene Full Name: neurexin 1
Band: 2p16.3
Quick LinksEntrez ID:9378; OMIM: 600565; Uniprot ID:NRX1A_HUMAN; ENSEMBL ID: ENSG00000179915; HGNC ID: 8008
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
125N-linked (GlcNAc...) (Potential).
190N-linked (GlcNAc...) (Potential).
790N-linked (GlcNAc...) (Potential).
1223N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
125N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
190N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
790N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1223N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15S-palmitoylHMM predict
125N-linkedHMM predict
190N-linkedHMM predict
256Phosphoserine(ATM)HMM predict
282Phosphotyrosine(EGFR)HMM predict
291Phosphotyrosine(INSR)HMM predict
297Phosphoserine(ATM)HMM predict
304Phosphoserine(CK2)HMM predict
313MethyllysineHMM predict
330Phosphotyrosine(INSR)HMM predict
400SulfotyrosineHMM predict
405SulfotyrosineHMM predict
419Phosphoserine(CDC2)HMM predict
428PhosphoserineHMM predict
428Phosphoserine(CDC2)HMM predict
486Phosphothreonine(CDC2)HMM predict
665O-linkedHMM predict
671Phosphoserine(PKA)HMM predict
707Phosphotyrosine(Jak)HMM predict
763O-linkedHMM predict
790N-linkedHMM predict
859PhosphoserineHMM predict
924Phosphotyrosine(INSR)HMM predict
976O-linkedHMM predict
998Phosphoserine(IKK)HMM predict
1027Phosphotyrosine(INSR)HMM predict
1035Phosphothreonine(PKC)HMM predict
1036Phosphotyrosine(Syk)HMM predict
1147Phosphothreonine(PKC)HMM predict
1172Phosphoserine(CK1)HMM predict
1223N-linkedHMM predict
1302O-linkedHMM predict
1303Phosphoserine(IKK)HMM predict
1325O-linkedHMM predict
1330O-linkedHMM predict
1345Phosphoserine(ATM)HMM predict
1360Phosphoserine(CK1)HMM predict
1377N-linkedHMM predict
1399Phosphoserine(IKK)HMM predict
1441Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004801
  • Location:chr2 50000991-51109106
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 51112651 51113151 500 3795
NRSF JurkatSISSRdata 51112645 51113131 486 3782
NRSF mAbJurkat 51110729 51112639 1910 2578
NRSF mAbJurkat 51112967 51114046 1079 4400
NRSF-mono JurkatQuESTdata 51112656 51113150 494 3797
NRSF-poly JurkatQuESTdata 51112660 51113141 481 3794
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 50480310 50480663 353 0
CBP T30-glioblastomaGSE21026 50480431 50480752 321 0
CTCF HelaGSE12889 50483037 50483327 290 0
CTCF G2GSE9613 50482966 50483390 424 0
CTCF G2GSE9613 50572456 50573528 1072 0
CTCF G2GSE9613 50827243 50827525 282 0
CTCF G2GSE9613 51108023 51109031 1008 0
ER E2-MCF7GSE14664 50609640 50609675 35 0
ER E2-MCF7GSE14664 50734651 50734684 33 0
ER E2-MCF7GSE14664 50792987 50793039 52 0
ER Fulvestrant-MCF7GSE14664 50734652 50734689 37 0
FOXA1 MCF7GSE15244 51093572 51094075 503 0
FoxA1 MCF7MACSdata 50478080 50478218 138 0
Myc hESGSE17917 50669775 50669970 195 0
Nanog hESGSE18292 50695947 50696347 400 0
Nanog hESGSE18292 50717101 50717701 600 0
Nanog hESGSE18292 50810194 50810657 463 0
Oct1 H2O2-HelaGSE14283 50734651 50734685 34 0
Oct1 H2O2-HelaGSE14283 50826357 50826384 27 0
Oct1 HelaGSE14283 50431552 50431588 36 0
Oct1 HelaGSE14283 50609641 50609674 33 0
Oct1 HelaGSE14283 50734631 50734687 56 0
Oct1 HelaGSE14283 50787323 50787366 43 0
P300 T0-glioblastomaGSE21026 50480302 50480661 359 0
P300 T30-glioblastomaGSE21026 50480141 50480635 494 0
RNAII Tamoxifen-MCF7GSE14664 50636898 50636985 87 0
RNAII Tamoxifen-MCF7GSE14664 51001079 51001113 34 0
RNAII Tamoxifen-MCF7GSE14664 51031706 51031804 98 0
Rb GrowingGSE19898 50617091 50617292 201 0
SRF GMOGSE8489 51095524 51095961 437 0
STAT1 IFNSISSRdata 51038475 51039014 539 0
Sox2 hESGSE18292 50695868 50696297 429 0
TAF k562GSE8489 50685804 50686028 224 0
TAFII hESGSE17917 50669769 50669969 200 0
TAFII hESGSE17917 50939797 50940054 257 0
TFAP2C MCF7GSE21234 51093670 51094076 406 0
hScc1 BcellGSE12603 50483010 50483355 345 0
hScc1 BcellGSE12603 50573033 50573469 436 0
hScc1 BcellGSE12603 51107986 51108242 256 0
hScc1 CdLSGSE12603 50482770 50483426 656 0
hScc1 CdLSGSE12603 50572492 50573528 1036 0
hScc1 G2GSE9613 50482947 50483390 443 0
hScc1 G2GSE9613 50572420 50573469 1049 0
hScc1 G2GSE9613 50827243 50827563 320 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-181b hsa-mir-181b-1 1 20868653
hsa-miR-181b hsa-mir-181b-2 9 20868653
hsa-miR-486-3p hsa-mir-486 8 20868653
hsa-miR-486-5p hsa-mir-486 8 20868653
No data
Cis-Nats regulation Top

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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