AutismKB 2.0

Annotation Detail for HMCN1


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Basic Information Top
Gene Symbol:HMCN1 ( ARMD1,FBLN6,FIBL-6,FIBL6 )
Gene Full Name: hemicentin 1
Band: 1q25.3-q31.1
Quick LinksEntrez ID:83872; OMIM: 608548; Uniprot ID:HMCN1_HUMAN; ENSEMBL ID: ENSG00000143341; HGNC ID: 19194
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
349N-linked (GlcNAc...) (Potential).
390N-linked (GlcNAc...) (Potential).
528N-linked (GlcNAc...) (Potential).
550N-linked (GlcNAc...) (Potential).
573N-linked (GlcNAc...) (Potential).
620N-linked (GlcNAc...) (Potential).
693N-linked (GlcNAc...) (Potential).
809N-linked (GlcNAc...) (Potential).
970N-linked (GlcNAc...) (Potential).
1158N-linked (GlcNAc...) (Potential).
1272N-linked (GlcNAc...) (Potential).
1369N-linked (GlcNAc...) (Potential).
1552N-linked (GlcNAc...) (Potential).
1929N-linked (GlcNAc...) (Potential).
2112N-linked (GlcNAc...) (Potential).
2155N-linked (GlcNAc...) (Potential).
2395N-linked (GlcNAc...) (Potential).
2689N-linked (GlcNAc...) (Potential).
2887N-linked (GlcNAc...) (Potential).
2973N-linked (GlcNAc...) (Potential).
3221N-linked (GlcNAc...) (Potential).
3300N-linked (GlcNAc...) (Potential).
3530N-linked (GlcNAc...) (Potential).
3689N-linked (GlcNAc...) (Potential).
3727N-linked (GlcNAc...) (Potential).
3812N-linked (GlcNAc...) (Potential).
4029N-linked (GlcNAc...) (Potential).
4401N-linked (GlcNAc...) (Potential).
4491N-linked (GlcNAc...) (Potential).
4606N-linked (GlcNAc...) (Potential).
4894N-linked (GlcNAc...) (Potential).
5040N-linked (GlcNAc...) (Potential).
5267N-linked (GlcNAc...) (Potential).
5615N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
349N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
390N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
528N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
550N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
573N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
620N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
693N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
809N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
970N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1158N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1272N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1369N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1552N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1929N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2112N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2155N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2395N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2689N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2887N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2973N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3221N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3300N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3530N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3689N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3727N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3812N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4029N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4401N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4491N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4606N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4894N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
5040N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
5267N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
5615N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
41Phosphothreonine(PKC)HMM predict
95O-linkedHMM predict
133Phosphoserine(CK1)HMM predict
165Phosphoserine(ATM)HMM predict
186Phosphotyrosine(Syk)HMM predict
250Phosphoserine(IKK)HMM predict
252Phosphoserine(ATM)HMM predict
252Phosphoserine(IKK)HMM predict
328Phosphothreonine(PKA)HMM predict
328Phosphothreonine(PKC)HMM predict
336Phosphoserine(PKA)HMM predict
349N-linkedHMM predict
366Phosphoserine(CK1)HMM predict
370Phosphoserine(CDC2)HMM predict
390N-linkedHMM predict
413Phosphotyrosine(Jak)HMM predict
420Phosphoserine(PKB)HMM predict
434Phosphothreonine(PKC)HMM predict
497Phosphotyrosine(INSR)HMM predict
528N-linkedHMM predict
532Phosphothreonine(MAPK)HMM predict
532Phosphothreonine(CDK)HMM predict
550N-linkedHMM predict
556N-linkedHMM predict
589Phosphotyrosine(INSR)HMM predict
615Phosphothreonine(PKC)HMM predict
620N-linkedHMM predict
638Phosphotyrosine(Jak)HMM predict
661Phosphothreonine(PKA)HMM predict
679Phosphotyrosine(INSR)HMM predict
693N-linkedHMM predict
770Phosphotyrosine(INSR)HMM predict
809N-linkedHMM predict
840Phosphoserine(ATM)HMM predict
865Phosphotyrosine(INSR)HMM predict
865Phosphotyrosine(Jak)HMM predict
880O-linkedHMM predict
883O-linkedHMM predict
885O-linkedHMM predict
958Phosphotyrosine(INSR)HMM predict
963O-linkedHMM predict
970N-linkedHMM predict
1049Phosphotyrosine(INSR)HMM predict
1049Phosphotyrosine(Jak)HMM predict
1052O-linkedHMM predict
1082Phosphoserine(ATM)HMM predict
1112PhosphothreonineHMM predict
1121Phosphoserine(CDC2)HMM predict
1158N-linkedHMM predict
1197Phosphothreonine(MAPK)HMM predict
1272N-linkedHMM predict
1293Phosphothreonine(CDC2)HMM predict
1293Phosphothreonine(MAPK)HMM predict
1293Phosphothreonine(CDK)HMM predict
1297Phosphothreonine(PKC)HMM predict
1308Phosphothreonine(PKC)HMM predict
1336Phosphotyrosine(INSR)HMM predict
1336Phosphotyrosine(Jak)HMM predict
1346Phosphothreonine(PKC)HMM predict
1347Phosphothreonine(PKC)HMM predict
1389Phosphoserine(CDC2)HMM predict
1402O-linkedHMM predict
1480O-linkedHMM predict
1523Phosphotyrosine(EGFR)HMM predict
1526O-linkedHMM predict
1543Phosphotyrosine(INSR)HMM predict
1552N-linkedHMM predict
1590Phosphoserine(CK1)HMM predict
1647Phosphothreonine(MAPK)HMM predict
1668N-linkedHMM predict
1710Phosphotyrosine(INSR)HMM predict
1761Phosphoserine(CDC2)HMM predict
1765Phosphothreonine(PKC)HMM predict
1803Phosphotyrosine(INSR)HMM predict
1827Phosphothreonine(PKC)HMM predict
1855N-linkedHMM predict
1929N-linkedHMM predict
2015O-linkedHMM predict
2050Phosphoserine(IKK)HMM predict
2118Phosphoserine(ATM)HMM predict
2172Phosphotyrosine(INSR)HMM predict
2272O-linkedHMM predict
2287Phosphotyrosine(EGFR)HMM predict
2379Phosphoserine(ATM)HMM predict
2496Phosphoserine(IKK)HMM predict
2549O-linkedHMM predict
2570Phosphoserine(CDC2)HMM predict
2570Phosphoserine(CDK)HMM predict
2591Phosphoserine(CDC2)HMM predict
2689N-linkedHMM predict
2690N-linkedHMM predict
2899Phosphoserine(CDC2)HMM predict
2973N-linkedHMM predict
2979N-linkedHMM predict
3028Phosphoserine(PKG)HMM predict
3033Phosphotyrosine(INSR)HMM predict
3034Phosphothreonine(INSR)HMM predict
3053Phosphotyrosine(INSR)HMM predict
3065Phosphoserine(CK1)HMM predict
3067Phosphoserine(CK1)HMM predict
3075Phosphothreonine(PKA)HMM predict
3128Phosphotyrosine(Jak)HMM predict
3170O-linkedHMM predict
3176O-linkedHMM predict
3197Phosphoserine(CK1)HMM predict
3214Phosphoserine(ATM)HMM predict
3221N-linkedHMM predict
3222Phosphotyrosine(INSR)HMM predict
3223Phosphothreonine(INSR)HMM predict
3289Phosphoserine(CK2)HMM predict
3300N-linkedHMM predict
3305N-linkedHMM predict
3354Phosphothreonine(PKC)HMM predict
3369Phosphothreonine(MAPK)HMM predict
3451O-linkedHMM predict
3453O-linkedHMM predict
3504Phosphotyrosine(INSR)HMM predict
3530N-linkedHMM predict
3612Phosphotyrosine(Jak)HMM predict
3612Phosphotyrosine(Syk)HMM predict
3640Phosphothreonine(PKC)HMM predict
3689N-linkedHMM predict
3702Phosphothreonine(PKC)HMM predict
3727N-linkedHMM predict
3781Phosphotyrosine(INSR)HMM predict
3791Phosphothreonine(PKC)HMM predict
3805O-linkedHMM predict
3812N-linkedHMM predict
3818N-linkedHMM predict
3871O-linkedHMM predict
3917O-linkedHMM predict
3919O-linkedHMM predict
4012O-linkedHMM predict
4014O-linkedHMM predict
4014Phosphothreonine(MAPK)HMM predict
4016Phosphoserine(CDC2)HMM predict
4029N-linkedHMM predict
4034N-linkedHMM predict
4056Phosphotyrosine(INSR)HMM predict
4146Phosphotyrosine(INSR)HMM predict
4156O-linkedHMM predict
4157O-linkedHMM predict
4159O-linkedHMM predict
4160O-linkedHMM predict
4255O-linkedHMM predict
4326Phosphotyrosine(INSR)HMM predict
4326Phosphotyrosine(Jak)HMM predict
4378Phosphothreonine(MAPK)HMM predict
4417Phosphotyrosine(INSR)HMM predict
4433Phosphoserine(CK1)HMM predict
4433Phosphoserine(IKK)HMM predict
4470O-linkedHMM predict
4535C-linkedHMM predict
4538C-linkedHMM predict
4589C-linkedHMM predict
4592C-linkedHMM predict
4595C-linkedHMM predict
4606N-linkedHMM predict
4615N-linkedHMM predict
4646C-linkedHMM predict
4649C-linkedHMM predict
4652C-linkedHMM predict
4703C-linkedHMM predict
4706C-linkedHMM predict
4709C-linkedHMM predict
4710O-linkedHMM predict
4713O-linkedHMM predict
4724Phosphothreonine(PKC)HMM predict
4725MethylarginineHMM predict
4728Phosphoserine(ATM)HMM predict
4759N-linkedHMM predict
4760C-linkedHMM predict
4763C-linkedHMM predict
4766C-linkedHMM predict
4783Phosphothreonine(PKA)HMM predict
4794MethylarginineHMM predict
4817C-linkedHMM predict
4820C-linkedHMM predict
4823C-linkedHMM predict
4836Phosphothreonine(PKC)HMM predict
4894N-linkedHMM predict
5012SulfotyrosineHMM predict
5040N-linkedHMM predict
5063Phosphoserine(CK1)HMM predict
5066Phosphoserine(CK1)HMM predict
5068Phosphotyrosine(EGFR)HMM predict
5184Phosphothreonine(PKA)HMM predict
5185Phosphoserine(PKA)HMM predict
5252Phosphotyrosine(INSR)HMM predict
5267N-linkedHMM predict
5306Phosphoserine(ATM)HMM predict
5333Phosphothreonine(MAPK)HMM predict
5376Phosphoserine(CDC2)HMM predict
5395Phosphotyrosine(INSR)HMM predict
5407Phosphoserine(CK1)HMM predict
5501O-linkedHMM predict
5613Phosphoserine(IKK)HMM predict
5615N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_031935
  • Location:chr1 183970305-184426701
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 183956517 183956728 211 13683
CTCF CD4SISSRdata 183956517 183956728 211 13683
CTCF G2GSE9613 183969648 183970247 599 358
Gata2 K562GSE18868 183969359 183969980 621 636
Myc hESGSE17917 183969765 183970094 329 376
TAFII hESGSE17917 183969989 183970337 348 143
p130 QuiescentGSE19898 183969786 183969953 167 436
p130 shRbSenescentGSE19898 183969853 183970163 310 298
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 184437486 184437516 30 10800
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 184093858 184094453 595 0
CTCF CD4GSE12889 184391469 184391664 195 0
CTCF CD4SISSRdata 184391469 184391664 195 0
FOXA1 MCF7GSE15244 184059816 184060359 543 0
FOXA1 MCF7GSE15244 184243439 184243978 539 0
FOXA1 MCF7GSE15244 184344105 184344727 622 0
FOXA1 MCF7GSE15244 184387978 184389417 1439 0
FoxA1 MCF7MACSdata 184243707 184243863 156 0
FoxA1 MCF7MACSdata 184243938 184244081 143 0
FoxA1 MCF7MACSdata 184318160 184318453 293 0
Gata2 K562GSE18868 184347917 184348566 649 0
H3K27me3 colorectalcancer 183970357 183971320 963 0
Myc K562GSE19551 184234250 184234484 234 0
Myc K562GSE19551 184318003 184318421 418 0
Myc K562GSE19551 184348105 184348504 399 0
Myc K562GSE19551 184358606 184359080 474 0
NRSF JurkatGSE13047 184153278 184153913 635 0
NRSF JurkatGSE13047 184338291 184338625 334 0
NRSF JurkatSISSRdata 184153466 184153729 263 0
NRSF mAbJurkat 184152368 184153739 1371 0
NRSF mAbJurkat 184154369 184154662 293 0
NRSF-mono JurkatQuESTdata 184153283 184153870 587 0
NRSF-mono JurkatQuESTdata 184338282 184338573 291 0
NRSF-poly JurkatQuESTdata 184153278 184153822 544 0
NRSF-poly JurkatQuESTdata 184338350 184338607 257 0
Oct1 H2O2-HelaGSE14283 183983533 183983560 27 0
Oct1 H2O2-HelaGSE14283 183995225 183995252 27 0
Oct1 H2O2-HelaGSE14283 184008213 184008254 41 0
Oct1 H2O2-HelaGSE14283 184025966 184025994 28 0
Oct1 H2O2-HelaGSE14283 184050683 184050720 37 0
Oct1 H2O2-HelaGSE14283 184086057 184086086 29 0
Oct1 H2O2-HelaGSE14283 184126233 184126261 28 0
Oct1 H2O2-HelaGSE14283 184265205 184265245 40 0
Oct1 H2O2-HelaGSE14283 184273899 184273934 35 0
Oct1 H2O2-HelaGSE14283 184315703 184315733 30 0
Oct1 H2O2-HelaGSE14283 184389292 184389322 30 0
Oct1 HelaGSE14283 183983533 183983574 41 0
Oct1 HelaGSE14283 184008213 184008254 41 0
Oct1 HelaGSE14283 184025966 184025999 33 0
Oct1 HelaGSE14283 184035291 184035323 32 0
Oct1 HelaGSE14283 184050685 184050721 36 0
Oct1 HelaGSE14283 184102769 184102800 31 0
Oct1 HelaGSE14283 184190163 184190204 41 0
Oct1 HelaGSE14283 184201235 184201268 33 0
Oct1 HelaGSE14283 184206445 184206478 33 0
Oct1 HelaGSE14283 184226421 184226486 65 0
Oct1 HelaGSE14283 184240596 184240654 58 0
Oct1 HelaGSE14283 184244824 184244851 27 0
Oct1 HelaGSE14283 184265194 184265246 52 0
Oct1 HelaGSE14283 184273897 184273940 43 0
Oct1 HelaGSE14283 184315700 184315735 35 0
Oct1 HelaGSE14283 184326428 184326459 31 0
Oct1 HelaGSE14283 184336026 184336065 39 0
Oct1 HelaGSE14283 184394136 184394206 70 0
Oct1 HelaGSE14283 184395558 184395620 62 0
Oct1 HelaGSE14283 184395782 184395824 42 0
Oct4 ESGSE20650 184330328 184330655 327 0
PAX3-FKHR Rh4GSE19063 184010891 184012509 1618 0
RARA MCF7GSE15244 184115420 184116053 633 0
RARA MCF7GSE15244 184344139 184344770 631 0
RARA MCF7GSE15244 184387869 184389773 1904 0
RARG MCF7GSE15244 184387905 184389136 1231 0
RNAII Tamoxifen-MCF7GSE14664 184201236 184201271 35 0
STAT1 HeLaGSE12783 184277609 184279087 1478 0
TFAP2C MCF7GSE21234 183991013 183991479 466 0
TFAP2C MCF7GSE21234 184388324 184388992 668 0
TFAP2C MCF7GSE21234 184418963 184419304 341 0
hScc1 CdLSGSE12603 184391282 184391613 331 0
p130 SenescentGSE19898 184419491 184419678 187 0
p63 keratinocytesGSE17611 184294941 184295679 738 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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