AutismKB 2.0

Annotation Detail for BIN1


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Basic Information Top
Gene Symbol:BIN1 ( AMPH2,AMPHL,DKFZp547F068,MGC10367,SH3P9 )
Gene Full Name: bridging integrator 1
Band: 2q14.3
Quick LinksEntrez ID:274; OMIM: 601248; Uniprot ID:BIN1_HUMAN; ENSEMBL ID: ENSG00000136717; HGNC ID: 1052
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
296Phosphoserine.
298Phosphoserine.
303Phosphoserine.
307Phosphothreonine.
323Phosphothreonine.
331Phosphoserine.
Location(AA) Modifications Resource
296Phosphoserine.Swiss-Prot 53.0
296PhosphoserinePhospho.ELM 6.0
298PhosphoserinePhospho.ELM 6.0
298Phosphoserine.Swiss-Prot 53.0
303Phosphoserine.Swiss-Prot 53.0
303PhosphoserinePhospho.ELM 6.0
307Phosphothreonine (By similarity).Swiss-Prot 53.0
307PhosphothreoninePhospho.ELM 6.0
331Phosphoserine.Swiss-Prot 53.0
331PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
7O-linkedHMM predict
71Phosphoserine(CAMK2)HMM predict
90Phosphotyrosine(Syk)HMM predict
157SulfotyrosineHMM predict
162Phosphothreonine(PKC)HMM predict
257Phosphoserine(CK1)HMM predict
294N-linkedHMM predict
296Phosphoserine(CDK)HMM predict
296Phosphoserine(CDC2)HMM predict
296O-linkedHMM predict
303O-linkedHMM predict
307Phosphothreonine(MAPK)HMM predict
323Phosphothreonine(MAPK)HMM predict
327O-linkedHMM predict
331Phosphoserine(CDK)HMM predict
331Phosphoserine(CDC2)HMM predict
333Phosphoserine(PKC)HMM predict
348Phosphothreonine(CDC2)HMM predict
348Phosphothreonine(CDK)HMM predict
348Phosphothreonine(MAPK)HMM predict
403Phosphoserine(CDC2)HMM predict
403PhosphoserineHMM predict
403Phosphoserine(CDK)HMM predict
409Phosphothreonine(MAPK)HMM predict
425Phosphoserine(CDC2)HMM predict
429O-linkedHMM predict
432O-linkedHMM predict
483O-linkedHMM predict
483Phosphoserine(CK2)HMM predict
503N-linkedHMM predict
531Phosphotyrosine(Syk)HMM predict
531SulfotyrosineHMM predict
579LysineHMM predict
587N-linkedHMM predict
593ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004305
  • Location:chr2 127522078-127581333
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 127592436 127592702 266 11236
FOXA1 MCF7GSE15244 127589458 127590259 801 8525
FoxA1 MCF7MACSdata 127589807 127590076 269 8608
FoxA1 MCF7MACSdata 127599699 127599883 184 18458
Oct1 H2O2-HelaGSE14283 127588923 127588963 40 7610
Oct1 HelaGSE14283 127588923 127588963 40 7610
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 127538422 127539552 1130 0
CTCF CD4GSE12889 127524251 127524469 218 0
CTCF CD4GSE12889 127542128 127542348 220 0
CTCF CD4SISSRdata 127524251 127524469 218 0
CTCF CD4SISSRdata 127542128 127542348 220 0
CTCF JurkatGSE12889 127542045 127542491 446 0
CTCF G2GSE9613 127522887 127531067 8180 0
CTCF G2GSE9613 127531537 127532811 1274 0
CTCF G2GSE9613 127533212 127534550 1338 0
CTCF G2GSE9613 127535006 127535335 329 0
CTCF G2GSE9613 127535845 127536187 342 0
CTCF G2GSE9613 127537596 127539293 1697 0
CTCF G2GSE9613 127541576 127544445 2869 0
CTCF G2GSE9613 127544865 127546593 1728 0
CTCF G2GSE9613 127547119 127548053 934 0
CTCF G2GSE9613 127548377 127548714 337 0
CTCF G2GSE9613 127549373 127550184 811 0
CTCF G2GSE9613 127551537 127551857 320 0
CTCF G2GSE9613 127552102 127556313 4211 0
CTCF G2GSE9613 127556658 127556977 319 0
CTCF G2GSE9613 127559336 127559603 267 0
CTCF G2GSE9613 127561383 127561717 334 0
CTCF G2GSE9613 127561999 127562457 458 0
CTCF G2GSE9613 127562822 127564877 2055 0
CTCF G2GSE9613 127566458 127566805 347 0
CTCF G2GSE9613 127567852 127568042 190 0
CTCF G2GSE9613 127568379 127568985 606 0
CTCF G2GSE9613 127571285 127572866 1581 0
CTCF G2GSE9613 127574450 127575154 704 0
CTCF G2GSE9613 127576853 127577179 326 0
CTCF G2GSE9613 127577495 127578373 878 0
CTCF G2GSE9613 127579260 127581898 2638 0
ER MCF7GSE19013 127544175 127544759 584 0
Fos K562GSE19551 127538535 127539360 825 0
Myc hESGSE17917 127580970 127581303 333 0
Oct1 H2O2-HelaGSE14283 127549645 127549685 40 0
Oct1 H2O2-HelaGSE14283 127549825 127549852 27 0
Oct1 HelaGSE14283 127549641 127549691 50 0
Oct1 HelaGSE14283 127549822 127549856 34 0
P300 T0-glioblastomaGSE21026 127568645 127569582 937 0
P300 T30-glioblastomaGSE21026 127538534 127539816 1282 0
Rb QuiescentGSE19898 127524183 127524437 254 0
Rb QuiescentGSE19898 127538817 127539379 562 0
Rb SenescentGSE19898 127524210 127524607 397 0
Rb SenescentGSE19898 127538758 127539304 546 0
Rb shRbQuiescentGSE19898 127538913 127539270 357 0
Rb shRbSenescenceGSE19898 127524285 127524412 127 0
Rb shRbSenescenceGSE19898 127538714 127539202 488 0
STAT1 IFNSISSRdata 127541843 127542597 754 0
TFAP2C MCF7GSE21234 127526609 127527184 575 0
TFAP2C MCF7GSE21234 127538676 127539420 744 0
TFAP2C MCF7GSE21234 127559153 127559800 647 0
TFAP2C MCF7GSE21234 127568548 127569218 670 0
TFAP2C MCF7GSE21234 127574314 127575385 1071 0
hScc1 BcellGSE12603 127523485 127524089 604 0
hScc1 BcellGSE12603 127524450 127525823 1373 0
hScc1 BcellGSE12603 127528118 127528536 418 0
hScc1 BcellGSE12603 127529704 127530286 582 0
hScc1 BcellGSE12603 127544087 127545242 1155 0
hScc1 BcellGSE12603 127545905 127546446 541 0
hScc1 BcellGSE12603 127547119 127547592 473 0
hScc1 BcellGSE12603 127548487 127548714 227 0
hScc1 BcellGSE12603 127549689 127550440 751 0
hScc1 BcellGSE12603 127552880 127553475 595 0
hScc1 BcellGSE12603 127555367 127556088 721 0
hScc1 BcellGSE12603 127556619 127556977 358 0
hScc1 BcellGSE12603 127561560 127561857 297 0
hScc1 BcellGSE12603 127566496 127566881 385 0
hScc1 BcellGSE12603 127568759 127568985 226 0
hScc1 BcellGSE12603 127571252 127571677 425 0
hScc1 BcellGSE12603 127576560 127576787 227 0
hScc1 BcellGSE12603 127579962 127581476 1514 0
hScc1 G2GSE9613 127524958 127526418 1460 0
hScc1 G2GSE9613 127545695 127546522 827 0
p130 QuiescentGSE19898 127538750 127539311 561 0
p130 QuiescentGSE19898 127539353 127539527 174 0
p130 SenescentGSE19898 127535363 127535653 290 0
p130 SenescentGSE19898 127538700 127539401 701 0
p130 SenescentGSE19898 127561193 127561557 364 0
p130 SenescentGSE19898 127579951 127580190 239 0
p130 shRbQuiescentGSE19898 127538608 127539403 795 0
p130 shRbSenescentGSE19898 127524042 127524522 480 0
p130 shRbSenescentGSE19898 127538581 127539334 753 0
p63 keratinocytesGSE17611 127564722 127565286 564 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-200c hsa-mir-200c 12 16929162
hsa-miR-200c* hsa-mir-200c 12 16929162
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