AutismKB 2.0

Annotation Detail for NHS


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Basic Information Top
Gene Symbol:NHS ( DKFZp781F2016,DKFZp781L0254,FLJ22511,SCML1 )
Gene Full Name: Nance-Horan syndrome (congenital cataracts and dental anomalies)
Band: Xp22.2-p22.13
Quick LinksEntrez ID:4810; OMIM: 300457; Uniprot ID:NHS_HUMAN; ENSEMBL ID: ENSG00000188158; HGNC ID: 7820
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
379Nuclear localization signal (Potential).
380Phosphothreonine.
394Phosphoserine.
397Phosphoserine.
1124Phosphoserine.
1128Phosphoserine.
1155Phosphoserine.
1241Phosphothreonine.
1478Phosphoserine.
Location(AA) Modifications Resource
243PhosphoserinePhospho.ELM 6.0
483PhosphoserinePhospho.ELM 6.0
485PhosphoserinePhospho.ELM 6.0
1124Phosphoserine.Swiss-Prot 53.0
1124PhosphoserinePhospho.ELM 6.0
1128Phosphoserine.Swiss-Prot 53.0
1128PhosphoserinePhospho.ELM 6.0
1478Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
28O-linkedHMM predict
31O-linkedHMM predict
65O-linkedHMM predict
245Phosphoserine(PKB)HMM predict
257Phosphoserine(IKK)HMM predict
326Phosphothreonine(MAPK)HMM predict
346N-linkedHMM predict
380Phosphothreonine(PKA)HMM predict
394Phosphoserine(CK1)HMM predict
394Phosphoserine(ATM)HMM predict
416Phosphothreonine(PKC)HMM predict
426Phosphoserine(IKK)HMM predict
474PhosphothreonineHMM predict
481Phosphothreonine(PKC)HMM predict
485Phosphoserine(PKB)HMM predict
488MethylarginineHMM predict
507Phosphotyrosine(INSR)HMM predict
520Phosphothreonine(MAPK)HMM predict
529Phosphoserine(CK1)HMM predict
530O-linkedHMM predict
530Phosphoserine(CDC2)HMM predict
530Phosphoserine(MAPK)HMM predict
530Phosphoserine(IKK)HMM predict
530PhosphoserineHMM predict
532O-linkedHMM predict
545Phosphoserine(ATM)HMM predict
550Phosphoserine(MAPK)HMM predict
572Phosphoserine(IKK)HMM predict
610Phosphoserine(CK1)HMM predict
610Phosphoserine(ATM)HMM predict
612N-linkedHMM predict
614Phosphoserine(IKK)HMM predict
616O-linkedHMM predict
617O-linkedHMM predict
617O-linkedHMM predict
619O-linkedHMM predict
622Phosphoserine(IKK)HMM predict
625O-linkedHMM predict
625O-linkedHMM predict
625Phosphoserine(IKK)HMM predict
627O-linkedHMM predict
633O-linkedHMM predict
644Phosphoserine(CK1)HMM predict
647Phosphoserine(CK1)HMM predict
680Phosphoserine(IKK)HMM predict
680Phosphoserine(PKB)HMM predict
693N-linkedHMM predict
694N-linkedHMM predict
696N-linkedHMM predict
698Phosphoserine(CK1)HMM predict
718Phosphoserine(CDC2)HMM predict
731Phosphoserine(IKK)HMM predict
747Phosphoserine(CK2)HMM predict
763Phosphotyrosine(Syk)HMM predict
763SulfotyrosineHMM predict
764Phosphotyrosine(INSR)HMM predict
764SulfotyrosineHMM predict
776N-linkedHMM predict
779Phosphotyrosine(EGFR)HMM predict
779Phosphotyrosine(INSR)HMM predict
829Phosphothreonine(MAPK)HMM predict
829Phosphothreonine(CDK)HMM predict
836Phosphoserine(PKB)HMM predict
855O-linkedHMM predict
876Phosphothreonine(CDC2)HMM predict
876Phosphothreonine(MAPK)HMM predict
895N-linkedHMM predict
943Phosphoserine(IKK)HMM predict
944N-linkedHMM predict
945O-linkedHMM predict
945Phosphoserine(IKK)HMM predict
946O-linkedHMM predict
947O-linkedHMM predict
949O-linkedHMM predict
951O-linkedHMM predict
952O-linkedHMM predict
959Phosphoserine(CDC2)HMM predict
962Phosphoserine(CK2)HMM predict
963O-linkedHMM predict
963Phosphoserine(CK1)HMM predict
965Phosphoserine(CK1)HMM predict
965Phosphoserine(ATM)HMM predict
965Phosphoserine(IKK)HMM predict
968Phosphoserine(CK1)HMM predict
968Phosphoserine(ATM)HMM predict
968Phosphoserine(IKK)HMM predict
972Phosphoserine(IKK)HMM predict
975Phosphothreonine(PKC)HMM predict
976Phosphothreonine(CDK)HMM predict
976PhosphothreonineHMM predict
978O-linkedHMM predict
990Phosphoserine(CDC2)HMM predict
990Phosphoserine(CDK)HMM predict
999Phosphoserine(MAPK)HMM predict
999Phosphoserine(CDK)HMM predict
1001O-linkedHMM predict
1006Phosphoserine(CK2)HMM predict
1006Phosphoserine(ATM)HMM predict
1010O-linkedHMM predict
1010Phosphothreonine(MAPK)HMM predict
1010Phosphothreonine(CDK)HMM predict
1012O-linkedHMM predict
1013O-linkedHMM predict
1017O-linkedHMM predict
1025Phosphoserine(CDC2)HMM predict
1025Phosphoserine(MAPK)HMM predict
1025Phosphoserine(CDK)HMM predict
1025Phosphoserine(ATM)HMM predict
1029Phosphoserine(PKC)HMM predict
1029Phosphoserine(CDK)HMM predict
1040Phosphoserine(CK1)HMM predict
1041Phosphoserine(PKA)HMM predict
1041Phosphoserine(PKG)HMM predict
1041Phosphoserine(IKK)HMM predict
1097Phosphothreonine(PKC)HMM predict
1109O-linkedHMM predict
1137N-linkedHMM predict
1138N-linkedHMM predict
1151O-linkedHMM predict
1155Phosphoserine(CDC2)HMM predict
1165N-linkedHMM predict
1173Phosphoserine(IKK)HMM predict
1199N-linkedHMM predict
1224N-linkedHMM predict
1241Phosphothreonine(MAPK)HMM predict
1304Phosphoserine(ATM)HMM predict
1308Phosphoserine(CDC2)HMM predict
1308Phosphoserine(CDK)HMM predict
1313Phosphothreonine(PKA)HMM predict
1371Phosphoserine(CK2)HMM predict
1384Phosphoserine(CK1)HMM predict
1391Phosphoserine(CK1)HMM predict
1391Phosphoserine(CK2)HMM predict
1391Phosphoserine(ATM)HMM predict
1394Phosphoserine(IKK)HMM predict
1397Phosphoserine(MAPK)HMM predict
1403Phosphoserine(CK2)HMM predict
1403Phosphoserine(ATM)HMM predict
1413Phosphoserine(CDC2)HMM predict
1440Phosphoserine(CAMK2)HMM predict
1454Phosphoserine(IKK)HMM predict
1457O-linkedHMM predict
1462Phosphoserine(CK1)HMM predict
1462Phosphoserine(IKK)HMM predict
1464O-linkedHMM predict
1465Phosphoserine(CDC2)HMM predict
1465Phosphoserine(MAPK)HMM predict
1468O-linkedHMM predict
1468Phosphoserine(IKK)HMM predict
1469N-linkedHMM predict
1471O-linkedHMM predict
1471O-linkedHMM predict
1472Phosphothreonine(CDK)HMM predict
1474N-linkedHMM predict
1490N-linkedHMM predict
1493N-linkedHMM predict
1535Phosphoserine(CDC2)HMM predict
1546Phosphoserine(CAMK2)HMM predict
1553Phosphoserine(CDC2)HMM predict
1553Phosphoserine(MAPK)HMM predict
1556Phosphoserine(IKK)HMM predict
1559Phosphoserine(MAPK)HMM predict
1571Phosphoserine(IKK)HMM predict
1574O-linkedHMM predict
1583O-linkedHMM predict
1591O-linkedHMM predict
1625Phosphoserine(CK1)HMM predict
1626Phosphoserine(CK1)HMM predict
1626Phosphoserine(ATM)HMM predict
1626Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198270
  • Location:chrX 17303463-17664031
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 17664398 17664839 441 587
p130 SenescentGSE19898 17664422 17664571 149 465
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 17630378 17631206 828 0
CTCF HelaGSE12889 17463349 17463528 179 0
CTCF G2GSE9613 17519239 17519582 343 0
CTCF G2GSE9613 17550689 17550919 230 0
ER E2-MCF7GSE14664 17357936 17357969 33 0
FOXA1 MCF7GSE15244 17422729 17423391 662 0
FOXA1 MCF7GSE15244 17424275 17424967 692 0
FOXA1 MCF7GSE15244 17427934 17428739 805 0
FoxA1 MCF7MACSdata 17422891 17423393 502 0
FoxA1 MCF7MACSdata 17424509 17424674 165 0
Nanog ESGSE20650 17412587 17413041 454 0
Nanog ESGSE20650 17529726 17530674 948 0
Nanog ESGSE20650 17647714 17648066 352 0
Nanog hESGSE18292 17529754 17530220 466 0
Nanog hESGSE18292 17647777 17648088 311 0
Oct1 H2O2-HelaGSE14283 17351812 17351852 40 0
Oct1 H2O2-HelaGSE14283 17654321 17654359 38 0
Oct1 HelaGSE14283 17339652 17339688 36 0
Oct1 HelaGSE14283 17351809 17351851 42 0
Oct1 HelaGSE14283 17354236 17354263 27 0
Oct1 HelaGSE14283 17366888 17366964 76 0
Oct1 HelaGSE14283 17373298 17373334 36 0
Oct1 HelaGSE14283 17417405 17417439 34 0
Oct1 HelaGSE14283 17535517 17535556 39 0
Oct1 HelaGSE14283 17603905 17603939 34 0
Oct1 HelaGSE14283 17612680 17612712 32 0
Oct1 HelaGSE14283 17627605 17627632 27 0
Oct1 HelaGSE14283 17637967 17638011 44 0
Oct1 HelaGSE14283 17654327 17654359 32 0
Oct1 HelaGSE14283 17659811 17659842 31 0
Oct4 hESGSE17917 17412677 17413116 439 0
P300 T30-glioblastomaGSE21026 17398069 17398893 824 0
P300 T30-glioblastomaGSE21026 17608508 17609323 815 0
PAX3-FKHR Rh4GSE19063 17547177 17548146 969 0
RARA MCF7GSE15244 17424419 17425193 774 0
RARA MCF7GSE15244 17427934 17428739 805 0
RARA MCF7GSE15244 17454916 17455422 506 0
RARG MCF7GSE15244 17427934 17428739 805 0
RNAII Tamoxifen-MCF7GSE14664 17373303 17373340 37 0
Rb QuiescentGSE19898 17510790 17510933 143 0
STAT1 HeLaGSE12783 17361761 17362627 866 0
STAT1 IFNSISSRdata 17361807 17362470 663 0
Sox2 hESGSE18292 17529739 17530410 671 0
TFAP2C MCF7GSE21234 17392219 17392593 374 0
TFAP2C MCF7GSE21234 17455008 17455663 655 0
TFAP2C MCF7GSE21234 17542203 17542583 380 0
hScc1 BcellGSE12603 17303671 17304595 924 0
hScc1 BcellGSE12603 17473624 17473865 241 0
hScc1 BcellGSE12603 17519239 17519618 379 0
hScc1 BcellGSE12603 17618066 17618537 471 0
hScc1 CdLSGSE12603 17519099 17520096 997 0
hScc1 CdLSGSE12603 17617713 17618537 824 0
hScc1 G2GSE9613 17519171 17519618 447 0
hScc1 G2GSE9613 17617995 17618537 542 0
p63 keratinocytesGSE17611 17475664 17476946 1282 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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