AutismKB 2.0

Annotation Detail for ALMS1


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Basic Information Top
Gene Symbol:ALMS1 ( ALSS,DKFZp686A118,DKFZp686D1828,KIAA0328 )
Gene Full Name: Alstrom syndrome 1
Band: 2p13.1
Quick LinksEntrez ID:7840; OMIM: 606844; Uniprot ID:ALMS1_HUMAN; ENSEMBL ID: ENSG00000116127; HGNC ID: 428
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2779Phosphoserine.
3406Phosphoserine (By similarity).
Location(AA) Modifications Resource
3718PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
92Phosphoserine(ATM)HMM predict
165Phosphoserine(ATM)HMM predict
167Phosphothreonine(PKC)HMM predict
182Phosphothreonine(PKA)HMM predict
212Phosphoserine(MAPK)HMM predict
223Phosphoserine(MAPK)HMM predict
271Phosphoserine(CK2)HMM predict
294Phosphoserine(CK1)HMM predict
296Phosphoserine(ATM)HMM predict
368Phosphoserine(IKK)HMM predict
372Phosphoserine(IKK)HMM predict
404Phosphoserine(CK1)HMM predict
448Phosphothreonine(PKA)HMM predict
448Phosphothreonine(PKC)HMM predict
513Phosphoserine(CK1)HMM predict
527O-linkedHMM predict
533O-linkedHMM predict
566O-linkedHMM predict
566Phosphothreonine(MAPK)HMM predict
615O-linkedHMM predict
639N-linkedHMM predict
664O-linkedHMM predict
666O-linkedHMM predict
681Phosphothreonine(PKC)HMM predict
713O-linkedHMM predict
713Phosphothreonine(MAPK)HMM predict
716O-linkedHMM predict
743O-linkedHMM predict
743Phosphoserine(PKG)HMM predict
745O-linkedHMM predict
745Phosphothreonine(MAPK)HMM predict
764Phosphoserine(ATM)HMM predict
804Phosphothreonine(PKC)HMM predict
849O-linkedHMM predict
849PhosphothreonineHMM predict
853O-linkedHMM predict
853O-linkedHMM predict
854O-linkedHMM predict
855O-linkedHMM predict
855O-linkedHMM predict
856O-linkedHMM predict
856Phosphoserine(CK2)HMM predict
857O-linkedHMM predict
860Phosphoserine(CK1)HMM predict
944O-linkedHMM predict
946O-linkedHMM predict
946PhosphothreonineHMM predict
955PhosphoserineHMM predict
957Phosphoserine(CAMK2)HMM predict
957Phosphoserine(CK1)HMM predict
999O-linkedHMM predict
1022Phosphothreonine(PKC)HMM predict
1109Phosphothreonine(PKC)HMM predict
1135O-linkedHMM predict
1135O-linkedHMM predict
1135PhosphothreonineHMM predict
1137O-linkedHMM predict
1139O-linkedHMM predict
1139O-linkedHMM predict
1140O-linkedHMM predict
1140O-linkedHMM predict
1141O-linkedHMM predict
1230O-linkedHMM predict
1230O-linkedHMM predict
1230Phosphothreonine(MAPK)HMM predict
1230PhosphothreonineHMM predict
1232O-linkedHMM predict
1232Phosphothreonine(MAPK)HMM predict
1234O-linkedHMM predict
1234O-linkedHMM predict
1235O-linkedHMM predict
1235O-linkedHMM predict
1238Phosphotyrosine(Jak)HMM predict
1277O-linkedHMM predict
1277PhosphothreonineHMM predict
1281O-linkedHMM predict
1281O-linkedHMM predict
1282O-linkedHMM predict
1282O-linkedHMM predict
1283O-linkedHMM predict
1311N-linkedHMM predict
1372O-linkedHMM predict
1372PhosphothreonineHMM predict
1374O-linkedHMM predict
1376O-linkedHMM predict
1376O-linkedHMM predict
1377O-linkedHMM predict
1377O-linkedHMM predict
1378O-linkedHMM predict
1379O-linkedHMM predict
1381Phosphoserine(ATM)HMM predict
1406N-linkedHMM predict
1467O-linkedHMM predict
1467PhosphothreonineHMM predict
1469O-linkedHMM predict
1471O-linkedHMM predict
1472O-linkedHMM predict
1472Phosphoserine(CDC2)HMM predict
1472Phosphoserine(MAPK)HMM predict
1472Phosphoserine(CDK)HMM predict
1474O-linkedHMM predict
1502Phosphoserine(PKG)HMM predict
1512O-linkedHMM predict
1516O-linkedHMM predict
1518O-linkedHMM predict
1519O-linkedHMM predict
1519Phosphoserine(CDC2)HMM predict
1519Phosphoserine(MAPK)HMM predict
1519Phosphoserine(CDK)HMM predict
1523Phosphoserine(CK1)HMM predict
1523Phosphoserine(ATM)HMM predict
1564O-linkedHMM predict
1566O-linkedHMM predict
1644Phosphoserine(PKG)HMM predict
1679Phosphoserine(ATM)HMM predict
1703O-linkedHMM predict
1703Phosphothreonine(MAPK)HMM predict
1705Phosphoserine(IKK)HMM predict
1709Phosphoserine(CK1)HMM predict
1752O-linkedHMM predict
1755O-linkedHMM predict
1798O-linkedHMM predict
1799O-linkedHMM predict
1856Phosphoserine(CK1)HMM predict
1895Phosphotyrosine(INSR)HMM predict
1967Phosphoserine(CDC2)HMM predict
2014Phosphothreonine(PKC)HMM predict
2039Phosphoserine(ATM)HMM predict
2041O-linkedHMM predict
2048Phosphoserine(CK1)HMM predict
2048Phosphoserine(ATM)HMM predict
2050Phosphothreonine(PKC)HMM predict
2089Phosphoserine(IKK)HMM predict
2182Phosphothreonine(PKC)HMM predict
2209N-linkedHMM predict
2214Phosphoserine(CK1)HMM predict
2214Phosphoserine(IKK)HMM predict
2257Phosphothreonine(PKC)HMM predict
2415Phosphoserine(CK2)HMM predict
2416Phosphoserine(ATM)HMM predict
2422N-linkedHMM predict
2429O-linkedHMM predict
2437Phosphoserine(CK1)HMM predict
2450Phosphoserine(CDC2)HMM predict
2465Phosphoserine(CK2)HMM predict
2561Phosphoserine(CDC2)HMM predict
2617N-linkedHMM predict
2635N-linkedHMM predict
2636N-linkedHMM predict
2703Phosphoserine(CDC2)HMM predict
2703Phosphoserine(CDK)HMM predict
2703Phosphoserine(ATM)HMM predict
2722Phosphoserine(IKK)HMM predict
2727N-linkedHMM predict
2768Phosphoserine(IKK)HMM predict
2769Phosphoserine(CDC2)HMM predict
2769Phosphoserine(MAPK)HMM predict
2772O-linkedHMM predict
2794Phosphoserine(PKG)HMM predict
2794Phosphoserine(CAMK2)HMM predict
2821Phosphoserine(IKK)HMM predict
2828N-linkedHMM predict
2831N-linkedHMM predict
2840N-linkedHMM predict
2856N-linkedHMM predict
2868N-linkedHMM predict
2912Phosphotyrosine(Jak)HMM predict
2912Phosphotyrosine(Syk)HMM predict
2944N-linkedHMM predict
3034O-linkedHMM predict
3035Phosphothreonine(CDC2)HMM predict
3035Phosphothreonine(MAPK)HMM predict
3035Phosphothreonine(CDK)HMM predict
3102Phosphothreonine(PKC)HMM predict
3134Phosphoserine(IKK)HMM predict
3160N-linkedHMM predict
3207Phosphoserine(CDK)HMM predict
3248Phosphoserine(CK1)HMM predict
3276Phosphotyrosine(Syk)HMM predict
3287Phosphoserine(CDC2)HMM predict
3287Phosphoserine(MAPK)HMM predict
3287Phosphoserine(CDK)HMM predict
3287Phosphoserine(ATM)HMM predict
3290Phosphoserine(IKK)HMM predict
3292Phosphoserine(CK1)HMM predict
3301Phosphoserine(CK1)HMM predict
3301Phosphoserine(IKK)HMM predict
3342Phosphothreonine(PKA)HMM predict
3342Phosphothreonine(PKC)HMM predict
3373Phosphoserine(CK1)HMM predict
3442Phosphothreonine(PKC)HMM predict
3470N-linkedHMM predict
3586Phosphothreonine(MAPK)HMM predict
3586Phosphothreonine(CDK)HMM predict
3731N-linkedHMM predict
3739Phosphoserine(CK2)HMM predict
3758Phosphoserine(IKK)HMM predict
3778Phosphoserine(CK1)HMM predict
3779Phosphoserine(CK1)HMM predict
3780Phosphoserine(CK1)HMM predict
3780Phosphoserine(CK2)HMM predict
3780Phosphoserine(ATM)HMM predict
3801Phosphoserine(CDC2)HMM predict
3801Phosphoserine(CDK)HMM predict
3838Phosphothreonine(PKC)HMM predict
3858Phosphoserine(IKK)HMM predict
3860Phosphoserine(CK1)HMM predict
3865Phosphoserine(IKK)HMM predict
3870N-linkedHMM predict
3875N-linkedHMM predict
3910O-linkedHMM predict
3910Phosphothreonine(CDC2)HMM predict
3910Phosphothreonine(MAPK)HMM predict
3913Phosphoserine(CK2)HMM predict
3922Phosphoserine(CK1)HMM predict
3971Phosphoserine(CK1)HMM predict
4015Phosphotyrosine(Jak)HMM predict
4122Phosphotyrosine(EGFR)HMM predict
4156Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015120
  • Location:chr2 73466393-73690553
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 73449546 73449847 301 16697
Rb QuiescentGSE19898 73466149 73466455 306 92
Rb SenescentGSE19898 73466073 73466455 382 130
p130 QuiescentGSE19898 73466117 73466377 260 147
p130 shRbQuiescentGSE19898 73466039 73466469 430 140
p130 shRbSenescentGSE19898 73466107 73466389 282 146
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 73700638 73701167 529 10349
CTCF G2GSE9613 73705126 73705490 364 14755
Oct1 HelaGSE14283 73694434 73694469 35 3898
TFAP2C MCF7GSE21234 73693268 73693575 307 2868
hScc1 G2GSE9613 73700786 73701205 419 10442
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 73466402 73466987 585 0
ER Breast-CancerGSE22609 73593682 73594571 889 0
ER E2-MCF7GSE14664 73670937 73670972 35 0
ER Fulvestrant-MCF7GSE14664 73643196 73643272 76 0
ER Fulvestrant-MCF7GSE14664 73665813 73665854 41 0
GABP GMOGSE8489 73668853 73669222 369 0
H3K4me2 HCT116GSE10453 73467167 73467524 357 0
H3K4me2 HCT116GSE10453 73468057 73468626 569 0
H3K4me3 colorectalcancer 73467312 73467524 212 0
H3ac HepG2E 73467094 73468700 1606 0
Myc K562GSE19551 73584791 73585176 385 0
Nanog ESGSE20650 73668868 73669258 390 0
Oct1 H2O2-HelaGSE14283 73514390 73514423 33 0
Oct1 H2O2-HelaGSE14283 73602335 73602363 28 0
Oct1 H2O2-HelaGSE14283 73644695 73644723 28 0
Oct1 HelaGSE14283 73497022 73497064 42 0
Oct1 HelaGSE14283 73504940 73504976 36 0
Oct1 HelaGSE14283 73566950 73566985 35 0
Oct1 HelaGSE14283 73592076 73592106 30 0
Oct1 HelaGSE14283 73602334 73602363 29 0
Oct1 HelaGSE14283 73644693 73644723 30 0
Oct1 HelaGSE14283 73649981 73650016 35 0
Oct1 HelaGSE14283 73668742 73668874 132 0
Oct1 HelaGSE14283 73674927 73674959 32 0
PHF8 Hs68plusFBSGSE20725 73465783 73467586 1803 0
Pol3 GM12878GSE19551 73686548 73686807 259 0
Rb GrowingGSE19898 73466828 73466958 130 0
Rb SenescentGSE19898 73466576 73466855 279 0
Rb SenescentGSE19898 73466869 73467131 262 0
Rb shRbSenescenceGSE19898 73466676 73467169 493 0
SRF GMOGSE8489 73668853 73669263 410 0
SRF HepG2GSE8489 73668853 73669299 446 0
TAF HelaGSE8489 73467346 73468878 1532 0
TAF k562GSE8489 73467273 73468878 1605 0
TAF k562GSE8489 73523050 73523307 257 0
hScc1 BcellGSE12603 73466369 73467094 725 0
p130 QuiescentGSE19898 73467007 73467279 272 0
p130 SenescentGSE19898 73466559 73466880 321 0
p130 SenescentGSE19898 73466899 73467276 377 0
p130 shRbQuiescentGSE19898 73466537 73466870 333 0
p130 shRbSenescentGSE19898 73466526 73466988 462 0
p130 shRbSenescentGSE19898 73467020 73467395 375 0
Validated miRNA targets Top
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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