AutismKB 2.0

Annotation Detail for TCOF1


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Basic Information Top
Gene Symbol:TCOF1 ( MFD1,treacle )
Gene Full Name: Treacher Collins-Franceschetti syndrome 1
Band: 5q32-q33.1
Quick LinksEntrez ID:6949; OMIM: 606847; Uniprot ID:TCOF_HUMAN; ENSEMBL ID: ENSG00000070814; HGNC ID: 11654
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
83Phosphoserine.
84Phosphothreonine.
85Phosphoserine.
87Phosphoserine.
88Phosphoserine.
138Phosphoserine.
144Phosphothreonine.
153Phosphoserine.
155N6-acetyllysine.
156Phosphoserine.
160Phosphoserine.
164Phosphoserine.
168Phosphothreonine.
171Phosphoserine.
173Phosphothreonine.
233Phosphoserine.
249Phosphothreonine.
296N6-acetyllysine.
304Phosphoserine.
310Phosphothreonine.
316Phosphothreonine.
339Phosphoserine (By similarity).
342Phosphoserine (By similarity).
343Phosphoserine (By similarity).
347Phosphoserine (By similarity).
349Phosphoserine (By similarity).
375Phosphoserine.
381Phosphoserine.
394Phosphothreonine.
413Phosphoserine (By similarity).
414Phosphoserine (By similarity).
417Phosphoserine (By similarity).
419Phosphoserine (By similarity).
430Phosphoserine (By similarity).
446Phosphoserine.
475Phosphoserine.
477Phosphoserine.
478Phosphoserine.
479Phosphoserine.
482Phosphoserine.
484Phosphoserine.
503Phosphoserine.
533Phosphothreonine.
545Phosphoserine (By similarity).
547Phosphoserine (By similarity).
548Phosphoserine (By similarity).
549Phosphoserine (By similarity).
581Phosphothreonine.
582Phosphoserine.
583Phosphoserine.
600N6-acetyllysine.
608Phosphoserine.
610Phosphoserine.
611Phosphoserine.
614Phosphoserine.
615Phosphoserine.
617Phosphoserine.
620Phosphoserine.
679Phosphoserine (By similarity).
686Phosphothreonine (By similarity).
693Phosphoserine (By similarity).
694Phosphoserine (By similarity).
695Phosphoserine (By similarity).
755N6-acetyllysine.
762Phosphoserine.
764Phosphoserine.
765Phosphoserine.
769Phosphoserine.
771Phosphoserine.
777Phosphoserine.
784Phosphoserine.
801Phosphoserine.
805Phosphothreonine.
868Phosphoserine.
870Phosphoserine.
871Phosphoserine.
875Phosphoserine.
877Phosphoserine.
906Phosphoserine.
914Phosphothreonine.
932Phosphoserine.
934Phosphoserine.
935Phosphoserine.
936Phosphoserine.
939Phosphoserine.
941Phosphoserine.
967Phosphoserine.
983Phosphothreonine.
996Phosphoserine.
997Phosphoserine.
998Phosphoserine.
999Phosphoserine.
1001Phosphoserine.
1111Phosphoserine.
1149Phosphoserine (By similarity).
1150Phosphoserine (By similarity).
1153Phosphoserine (By similarity).
1154Phosphoserine (By similarity).
1190Phosphoserine.
1191Phosphoserine.
1222Phosphothreonine.
1227Phosphoserine.
1228Phosphoserine.
1230Phosphoserine.
1234Phosphothreonine.
1257Phosphoserine.
1350Phosphoserine.
1358Phosphothreonine.
1361Phosphoserine.
1376Phosphoserine.
1378Phosphoserine.
1407Phosphoserine.
1410Phosphoserine.
1414N6-acetyllysine.
1471Phosphoserine.
Location(AA) Modifications Resource
83Phosphoserine.Swiss-Prot 53.0
84Phosphothreonine.Swiss-Prot 53.0
85Phosphoserine.Swiss-Prot 53.0
87Phosphoserine.Swiss-Prot 53.0
88Phosphoserine.Swiss-Prot 53.0
164Phosphoserine.Swiss-Prot 53.0
164PhosphoserinePhospho.ELM 6.0
171PhosphoserinePhospho.ELM 6.0
171Phosphoserine.Swiss-Prot 53.0
173Phosphothreonine (By similarity).Swiss-Prot 53.0
233Phosphoserine.Swiss-Prot 53.0
249Phosphothreonine.Swiss-Prot 53.0
446Phosphoserine.Swiss-Prot 53.0
475Phosphoserine.Swiss-Prot 53.0
477Phosphoserine.Swiss-Prot 53.0
478Phosphoserine.Swiss-Prot 53.0
479Phosphoserine.Swiss-Prot 53.0
482Phosphoserine.Swiss-Prot 53.0
484Phosphoserine.Swiss-Prot 53.0
608Phosphoserine.Swiss-Prot 53.0
610Phosphoserine.Swiss-Prot 53.0
611Phosphoserine.Swiss-Prot 53.0
614Phosphoserine.Swiss-Prot 53.0
615Phosphoserine.Swiss-Prot 53.0
617Phosphoserine.Swiss-Prot 53.0
620Phosphoserine.Swiss-Prot 53.0
868Phosphoserine.Swiss-Prot 53.0
870Phosphoserine.Swiss-Prot 53.0
871Phosphoserine.Swiss-Prot 53.0
875Phosphoserine.Swiss-Prot 53.0
877Phosphoserine.Swiss-Prot 53.0
890PhosphoserinePhospho.ELM 6.0
906Phosphoserine.Swiss-Prot 53.0
932Phosphoserine.Swiss-Prot 53.0
934Phosphoserine.Swiss-Prot 53.0
935Phosphoserine.Swiss-Prot 53.0
936Phosphoserine.Swiss-Prot 53.0
939Phosphoserine.Swiss-Prot 53.0
941Phosphoserine.Swiss-Prot 53.0
967Phosphoserine.Swiss-Prot 53.0
996Phosphoserine.Swiss-Prot 53.0
997Phosphoserine.Swiss-Prot 53.0
998Phosphoserine.Swiss-Prot 53.0
999Phosphoserine.Swiss-Prot 53.0
1001Phosphoserine.Swiss-Prot 53.0
1034PhosphoserinePhospho.ELM 6.0
1111Phosphoserine.Swiss-Prot 53.0
1151PhosphoserinePhospho.ELM 6.0
1228Phosphoserine.Swiss-Prot 53.0
1257Phosphoserine.Swiss-Prot 53.0
1299PhosphoserinePhospho.ELM 6.0
1301PhosphoserinePhospho.ELM 6.0
1350Phosphoserine.Swiss-Prot 53.0
1376Phosphoserine.Swiss-Prot 53.0
1378Phosphoserine.Swiss-Prot 53.0
1394PhosphoserinePhospho.ELM 6.0
1471Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
50SulfotyrosineHMM predict
84Phosphothreonine(PKC)HMM predict
85Phosphoserine(CK2)HMM predict
87Phosphoserine(CK2)HMM predict
88Phosphoserine(CK1)HMM predict
88Phosphoserine(CK2)HMM predict
102Phosphothreonine(MAPK)HMM predict
107Phosphoserine(IKK)HMM predict
107Phosphoserine(PKB)HMM predict
108O-linkedHMM predict
129Phosphothreonine(PKC)HMM predict
156Phosphoserine(CDC2)HMM predict
160Phosphoserine(PKG)HMM predict
166N-linkedHMM predict
178Phosphoserine(ATM)HMM predict
198Phosphoserine(CK2)HMM predict
199Phosphoserine(CK2)HMM predict
199PhosphoserineHMM predict
200Phosphoserine(CK1)HMM predict
200Phosphoserine(IKK)HMM predict
203O-linkedHMM predict
204Phosphoserine(CK1)HMM predict
205Phosphoserine(CK1)HMM predict
206Phosphoserine(CK2)HMM predict
207Phosphoserine(CK2)HMM predict
207Phosphoserine(ATM)HMM predict
217Phosphoserine(PKG)HMM predict
233Phosphoserine(CDC2)HMM predict
233Phosphoserine(CDK)HMM predict
233PhosphoserineHMM predict
237MethyllysineHMM predict
249Phosphothreonine(MAPK)HMM predict
270Phosphoserine(CK1)HMM predict
270Phosphoserine(CK2)HMM predict
272Phosphoserine(CK1)HMM predict
273Phosphoserine(CK1)HMM predict
273Phosphoserine(CK2)HMM predict
277Phosphoserine(CK1)HMM predict
277Phosphoserine(CK2)HMM predict
279Phosphoserine(CK2)HMM predict
279PhosphoserineHMM predict
310Phosphothreonine(CDC2)HMM predict
310Phosphothreonine(CDK)HMM predict
316O-linkedHMM predict
339Phosphoserine(CK1)HMM predict
339Phosphoserine(IKK)HMM predict
341Phosphoserine(CK1)HMM predict
342Phosphoserine(CK1)HMM predict
347Phosphoserine(CK1)HMM predict
347Phosphoserine(ATM)HMM predict
349Phosphoserine(CK1)HMM predict
349Phosphoserine(CK2)HMM predict
349Phosphoserine(IKK)HMM predict
353Phosphothreonine(MAPK)HMM predict
381Phosphoserine(CDC2)HMM predict
381PhosphoserineHMM predict
410Phosphoserine(ATM)HMM predict
410Phosphoserine(IKK)HMM predict
412Phosphoserine(CK1)HMM predict
413Phosphoserine(CK1)HMM predict
417Phosphoserine(CK1)HMM predict
417Phosphoserine(CK2)HMM predict
419Phosphoserine(CK1)HMM predict
419Phosphoserine(CK2)HMM predict
446Phosphoserine(CDC2)HMM predict
446PhosphoserineHMM predict
475Phosphoserine(CK1)HMM predict
477Phosphoserine(CK1)HMM predict
478Phosphoserine(CK1)HMM predict
479Phosphoserine(CK1)HMM predict
479Phosphoserine(CK2)HMM predict
479Phosphoserine(IKK)HMM predict
484Phosphoserine(CK1)HMM predict
484Phosphoserine(CK2)HMM predict
503Phosphoserine(CDC2)HMM predict
503Phosphoserine(CDK)HMM predict
533Phosphothreonine(MAPK)HMM predict
547Phosphoserine(CK1)HMM predict
548Phosphoserine(CK1)HMM predict
553Phosphoserine(CK1)HMM predict
553Phosphoserine(ATM)HMM predict
555Phosphoserine(CK1)HMM predict
556Phosphoserine(CK1)HMM predict
556Phosphoserine(CK2)HMM predict
583Phosphoserine(CDC2)HMM predict
583PhosphoserineHMM predict
608Phosphoserine(CK2)HMM predict
610Phosphoserine(CK1)HMM predict
611Phosphoserine(CK1)HMM predict
614Phosphoserine(CK1)HMM predict
615Phosphoserine(CK1)HMM predict
615Phosphoserine(ATM)HMM predict
620O-linkedHMM predict
620Phosphoserine(CK1)HMM predict
649N-linkedHMM predict
653O-linkedHMM predict
674O-linkedHMM predict
674O-linkedHMM predict
674Phosphoserine(CDC2)HMM predict
674Phosphoserine(IKK)HMM predict
678O-linkedHMM predict
679Phosphoserine(CDC2)HMM predict
694Phosphoserine(CK1)HMM predict
694Phosphoserine(CK2)HMM predict
695Phosphoserine(CK1)HMM predict
695Phosphoserine(CK2)HMM predict
695Phosphoserine(IKK)HMM predict
696Phosphoserine(CK1)HMM predict
696Phosphoserine(CK2)HMM predict
699Phosphoserine(CK1)HMM predict
699Phosphoserine(CK2)HMM predict
701Phosphoserine(CK1)HMM predict
701Phosphoserine(CK2)HMM predict
762Phosphoserine(CK2)HMM predict
764Phosphoserine(CK1)HMM predict
765Phosphoserine(CK1)HMM predict
769Phosphoserine(CK1)HMM predict
769Phosphoserine(CK2)HMM predict
769Phosphoserine(ATM)HMM predict
771Phosphoserine(CK1)HMM predict
771Phosphoserine(CK2)HMM predict
771PhosphoserineHMM predict
777O-linkedHMM predict
823Phosphoserine(CDC2)HMM predict
825Phosphoserine(PKC)HMM predict
825PhosphoserineHMM predict
836N-linkedHMM predict
868Phosphoserine(CK1)HMM predict
868Phosphoserine(CK2)HMM predict
870Phosphoserine(CK1)HMM predict
870Phosphoserine(CK2)HMM predict
870PhosphoserineHMM predict
875Phosphoserine(CK1)HMM predict
875Phosphoserine(CK2)HMM predict
875Phosphoserine(ATM)HMM predict
877Phosphoserine(CK1)HMM predict
877Phosphoserine(CK2)HMM predict
906Phosphoserine(CDC2)HMM predict
906PhosphoserineHMM predict
914Phosphothreonine(CDC2)HMM predict
914Phosphothreonine(MAPK)HMM predict
914Phosphothreonine(CDK)HMM predict
922O-linkedHMM predict
932Phosphoserine(IKK)HMM predict
934Phosphoserine(CK1)HMM predict
934Phosphoserine(CK2)HMM predict
939Phosphoserine(CK1)HMM predict
941Phosphoserine(CK1)HMM predict
941Phosphoserine(CK2)HMM predict
941Phosphoserine(ATM)HMM predict
951O-linkedHMM predict
965N-linkedHMM predict
967O-linkedHMM predict
967Phosphoserine(CDC2)HMM predict
967Phosphoserine(CDK)HMM predict
974O-linkedHMM predict
983Phosphothreonine(MAPK)HMM predict
983Phosphothreonine(CDK)HMM predict
990Phosphoserine(PKG)HMM predict
990Phosphoserine(CK2)HMM predict
993O-linkedHMM predict
997Phosphoserine(PKG)HMM predict
998Phosphoserine(CK1)HMM predict
999Phosphoserine(CK2)HMM predict
1001Phosphoserine(CK2)HMM predict
1050Phosphoserine(PKC)HMM predict
1085O-linkedHMM predict
1085Phosphoserine(IKK)HMM predict
1097O-linkedHMM predict
1098Phosphoserine(IKK)HMM predict
1110O-linkedHMM predict
1111O-linkedHMM predict
1111Phosphoserine(CDC2)HMM predict
1115O-linkedHMM predict
1116Phosphoserine(CK2)HMM predict
1142Phosphoserine(CK2)HMM predict
1142PhosphoserineHMM predict
1143Phosphoserine(CK1)HMM predict
1146Phosphoserine(IKK)HMM predict
1149Phosphoserine(CK1)HMM predict
1150Phosphoserine(ATM)HMM predict
1152Phosphoserine(CK1)HMM predict
1154Phosphoserine(CK1)HMM predict
1156Phosphoserine(CK1)HMM predict
1175Phosphothreonine(MAPK)HMM predict
1175Phosphothreonine(CDK)HMM predict
1177Phosphoserine(MAPK)HMM predict
1190Phosphoserine(CK2)HMM predict
1191Phosphoserine(CK2)HMM predict
1191PhosphoserineHMM predict
1206Phosphotyrosine(INSR)HMM predict
1212Phosphothreonine(MAPK)HMM predict
1216Phosphoserine(ATM)HMM predict
1228Phosphoserine(ATM)HMM predict
1230O-linkedHMM predict
1230Phosphoserine(CK1)HMM predict
1230Phosphoserine(CK2)HMM predict
1232Phosphoserine(PKA)HMM predict
1234O-linkedHMM predict
1257Phosphoserine(ATM)HMM predict
1267O-linkedHMM predict
1270Phosphothreonine(CDC2)HMM predict
1270Phosphothreonine(CDK)HMM predict
1294N-linkedHMM predict
1350Phosphoserine(PKA)HMM predict
1350Phosphoserine(PKG)HMM predict
1358Phosphothreonine(PKC)HMM predict
1358Phosphothreonine(CDC2)HMM predict
1358Phosphothreonine(MAPK)HMM predict
1358Phosphothreonine(CDK)HMM predict
1361Phosphoserine(PKC)HMM predict
1361Phosphoserine(CDK)HMM predict
1378Phosphoserine(CDC2)HMM predict
1378Phosphoserine(IKK)HMM predict
1382O-linkedHMM predict
1383O-linkedHMM predict
1410Phosphoserine(ATM)HMM predict
1466Phosphothreonine(PKC)HMM predict
1471Phosphoserine(ATM)HMM predict
1471Phosphoserine(IKK)HMM predict
1473Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000356
  • Location:chr5 149717427-149760062
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 149754894 149755000 106 0
CTCF CD4SISSRdata 149754894 149755000 106 0
CTCF G2GSE9613 149749628 149749839 211 0
CTCF G2GSE9613 149751702 149751975 273 0
CTCF G2GSE9613 149753039 149753417 378 0
CTCF G2GSE9613 149754696 149755410 714 0
CTCF G2GSE9613 149755892 149756601 709 0
CTCF G2GSE9613 149757977 149758634 657 0
CTCF G2GSE9613 149758903 149759820 917 0
Oct1 H2O2-HelaGSE14283 149744930 149744960 30 0
Oct1 H2O2-HelaGSE14283 149747089 149747118 29 0
Oct1 HelaGSE14283 149744930 149744974 44 0
P300 T30-glioblastomaGSE21026 149753816 149754583 767 0
hScc1 BcellGSE12603 149759474 149759731 257 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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