AutismKB 2.0

Annotation Detail for MDC1


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Basic Information Top
Gene Symbol:MDC1 ( DKFZp781A0122,KIAA0170,MGC166888,NFBD1 )
Gene Full Name: mediator of DNA-damage checkpoint 1
Band: 6p21.33
Quick LinksEntrez ID:9656; OMIM: 607593; Uniprot ID:MDC1_HUMAN; ENSEMBL ID: ENSG00000137337; HGNC ID: 21163
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
168Phosphoserine.
176Phosphoserine.
299Phosphoserine.
301Phosphothreonine.
329Phosphoserine.
331Phosphothreonine.
341Phosphothreonine.
372Phosphoserine.
376Phosphoserine.
378Phosphothreonine.
394Phosphoserine.
397Phosphoserine.
402Phosphoserine.
404Phosphothreonine.
411Phosphoserine.
422Phosphoserine.
449Phosphothreonine.
453Phosphoserine.
455Phosphothreonine.
495Phosphoserine.
498Phosphoserine.
504Phosphoserine.
513Phosphoserine.
516Phosphoserine.
523Phosphothreonine.
652Phosphothreonine.
654Phosphothreonine.
659Phosphothreonine.
763Phosphoserine.
765Phosphothreonine.
780Phosphoserine.
793Phosphoserine.
812N6-acetyllysine.
882Phosphoserine.
955Phosphoserine.
964Phosphoserine.
986Phosphoserine.
988Phosphoserine.
995Phosphoserine.
1033Phosphoserine.
1068Phosphoserine.
1086Phosphoserine.
1095Phosphoserine.
1157Phosphothreonine.
1198Phosphothreonine.
1212Phosphoserine.
1399Phosphoserine.
1400Phosphoserine.
1402N6-acetyllysine.
1403Phosphothreonine.
1425Phosphothreonine.
1430Phosphoserine.
1444Phosphothreonine.
1461Phosphothreonine.
1466Phosphothreonine.
1589Phosphothreonine.
1601Phosphothreonine.
1604Phosphoserine.
1608Phosphothreonine.
1623Phosphothreonine.
1630Phosphothreonine.
1649Phosphothreonine.
1664Phosphothreonine.
1671Phosphothreonine.
1681Phosphoserine.
1696Phosphothreonine.
1697Phosphothreonine.
1702Phosphoserine.
1711Phosphoserine.
1775Phosphoserine.
1797Phosphoserine.
1814Phosphoserine.
1820Phosphoserine.
1858Phosphothreonine.
Location(AA) Modifications Resource
168Phosphoserine.Swiss-Prot 53.0
168PhosphoserinePhospho.ELM 6.0
329PhosphoserinePhospho.ELM 6.0
329Phosphoserine.Swiss-Prot 53.0
331PhosphothreoninePhospho.ELM 6.0
331Phosphothreonine.Swiss-Prot 53.0
402PhosphoserinePhospho.ELM 6.0
402Phosphoserine.Swiss-Prot 53.0
404Phosphothreonine.Swiss-Prot 53.0
404PhosphothreoninePhospho.ELM 6.0
449PhosphothreoninePhospho.ELM 6.0
453Phosphoserine (By similarity).Swiss-Prot 53.0
455PhosphothreoninePhospho.ELM 6.0
455Phosphothreonine (By similarity).Swiss-Prot 53.0
495Phosphoserine.Swiss-Prot 53.0
495PhosphoserinePhospho.ELM 6.0
498Phosphoserine.Swiss-Prot 53.0
498PhosphoserinePhospho.ELM 6.0
793PhosphoserinePhospho.ELM 6.0
882PhosphoserinePhospho.ELM 6.0
882Phosphoserine.Swiss-Prot 53.0
964Phosphoserine.Swiss-Prot 53.0
964PhosphoserinePhospho.ELM 6.0
988Phosphoserine.Swiss-Prot 53.0
988PhosphoserinePhospho.ELM 6.0
995PhosphoserinePhospho.ELM 6.0
995Phosphoserine.Swiss-Prot 53.0
998PhosphoserinePhospho.ELM 6.0
1425Phosphothreonine.Swiss-Prot 53.0
1425PhosphothreoninePhospho.ELM 6.0
1444PhosphothreoninePhospho.ELM 6.0
1461Phosphothreonine.Swiss-Prot 53.0
1461PhosphothreoninePhospho.ELM 6.0
1526PhosphothreoninePhospho.ELM 6.0
1797Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
94Phosphoserine(IKK)HMM predict
96N-linkedHMM predict
108Phosphoserine(CDC2)HMM predict
108Phosphoserine(MAPK)HMM predict
108Phosphoserine(CDK)HMM predict
168Phosphoserine(CK1)HMM predict
168Phosphoserine(CK2)HMM predict
168PhosphoserineHMM predict
186Phosphothreonine(PKC)HMM predict
188Phosphoserine(PKA)HMM predict
188Phosphoserine(CK1)HMM predict
242Phosphothreonine(PKC)HMM predict
248Phosphoserine(PKG)HMM predict
270N-linkedHMM predict
292Phosphoserine(ATM)HMM predict
372Phosphoserine(ATM)HMM predict
394Phosphoserine(IKK)HMM predict
415Phosphothreonine(PKC)HMM predict
422Phosphoserine(ATM)HMM predict
447Phosphothreonine(PKC)HMM predict
485Phosphoserine(CAMK2)HMM predict
485Phosphoserine(CK1)HMM predict
498Phosphoserine(CK1)HMM predict
498Phosphoserine(CK2)HMM predict
498PhosphoserineHMM predict
513Phosphoserine(ATM)HMM predict
549N-linkedHMM predict
586Phosphoserine(IKK)HMM predict
598Phosphoserine(PKG)HMM predict
644N-linkedHMM predict
670Phosphothreonine(PKC)HMM predict
688Phosphotyrosine(EGFR)HMM predict
688Phosphotyrosine(INSR)HMM predict
688Phosphotyrosine(SRC)HMM predict
688SulfotyrosineHMM predict
691PhosphoserineHMM predict
763Phosphoserine(CK1)HMM predict
763Phosphoserine(IKK)HMM predict
780Phosphoserine(CDC2)HMM predict
809Phosphothreonine(PKC)HMM predict
844Phosphothreonine(PKA)HMM predict
889Phosphoserine(PKG)HMM predict
896Phosphothreonine(CK2)HMM predict
897Phosphoserine(CK1)HMM predict
909Phosphothreonine(PKC)HMM predict
963O-linkedHMM predict
964O-linkedHMM predict
964Phosphoserine(CDC2)HMM predict
966O-linkedHMM predict
966Phosphothreonine(CDC2)HMM predict
966Phosphothreonine(CDK)HMM predict
980O-linkedHMM predict
986O-linkedHMM predict
993MethylarginineHMM predict
995Phosphoserine(CDC2)HMM predict
995Phosphoserine(CDK)HMM predict
995Phosphoserine(IKK)HMM predict
995PhosphoserineHMM predict
998Phosphoserine(CDC2)HMM predict
1033Phosphoserine(IKK)HMM predict
1057Phosphoserine(ATM)HMM predict
1077Phosphothreonine(PKC)HMM predict
1086Phosphoserine(ATM)HMM predict
1086Phosphoserine(IKK)HMM predict
1095Phosphoserine(CK2)HMM predict
1109Phosphothreonine(PKC)HMM predict
1113Phosphoserine(PKG)HMM predict
1122O-linkedHMM predict
1130O-linkedHMM predict
1130O-linkedHMM predict
1132O-linkedHMM predict
1132O-linkedHMM predict
1133O-linkedHMM predict
1138O-linkedHMM predict
1138O-linkedHMM predict
1138Phosphothreonine(MAPK)HMM predict
1142O-linkedHMM predict
1143Phosphoserine(IKK)HMM predict
1150Phosphothreonine(PKC)HMM predict
1151N-linkedHMM predict
1153Phosphoserine(CDC2)HMM predict
1157Phosphothreonine(CDC2)HMM predict
1171O-linkedHMM predict
1173O-linkedHMM predict
1179O-linkedHMM predict
1180O-linkedHMM predict
1180Phosphoserine(CK1)HMM predict
1184Phosphoserine(IKK)HMM predict
1192Phosphoserine(PKG)HMM predict
1194Phosphoserine(CDC2)HMM predict
1194PhosphoserineHMM predict
1195Phosphoserine(CK1)HMM predict
1221O-linkedHMM predict
1225Phosphoserine(ATM)HMM predict
1225Phosphoserine(IKK)HMM predict
1233N-linkedHMM predict
1235Phosphoserine(CDC2)HMM predict
1235PhosphoserineHMM predict
1239Phosphothreonine(CDC2)HMM predict
1253O-linkedHMM predict
1255O-linkedHMM predict
1266Phosphotyrosine(SRC)HMM predict
1269Phosphothreonine(PKC)HMM predict
1274N-linkedHMM predict
1276Phosphoserine(CDC2)HMM predict
1276PhosphoserineHMM predict
1280Phosphothreonine(CDC2)HMM predict
1302Phosphothreonine(CDC2)HMM predict
1302Phosphothreonine(MAPK)HMM predict
1302Phosphothreonine(CDK)HMM predict
1306O-linkedHMM predict
1306O-linkedHMM predict
1314Phosphothreonine(PKC)HMM predict
1315N-linkedHMM predict
1343O-linkedHMM predict
1343Phosphothreonine(CDC2)HMM predict
1343Phosphothreonine(MAPK)HMM predict
1343Phosphothreonine(CDK)HMM predict
1347O-linkedHMM predict
1347O-linkedHMM predict
1355Phosphothreonine(PKC)HMM predict
1356N-linkedHMM predict
1362N-linkedHMM predict
1376O-linkedHMM predict
1378O-linkedHMM predict
1378O-linkedHMM predict
1378Phosphoserine(CK1)HMM predict
1384O-linkedHMM predict
1384O-linkedHMM predict
1384Phosphothreonine(CDC2)HMM predict
1384Phosphothreonine(MAPK)HMM predict
1388O-linkedHMM predict
1388O-linkedHMM predict
1392Phosphothreonine(PKC)HMM predict
1397N-linkedHMM predict
1399Phosphoserine(CDC2)HMM predict
1399PhosphoserineHMM predict
1403Phosphothreonine(MAPK)HMM predict
1403Phosphothreonine(CDK)HMM predict
1417O-linkedHMM predict
1419O-linkedHMM predict
1419Phosphoserine(CK1)HMM predict
1425O-linkedHMM predict
1425Phosphothreonine(CDC2)HMM predict
1425Phosphothreonine(MAPK)HMM predict
1425Phosphothreonine(CDK)HMM predict
1429O-linkedHMM predict
1430Phosphoserine(IKK)HMM predict
1437Phosphothreonine(PKC)HMM predict
1438N-linkedHMM predict
1440Phosphoserine(CDC2)HMM predict
1458O-linkedHMM predict
1460O-linkedHMM predict
1466O-linkedHMM predict
1466Phosphothreonine(CDC2)HMM predict
1466Phosphothreonine(MAPK)HMM predict
1466Phosphothreonine(CDK)HMM predict
1470O-linkedHMM predict
1471Phosphoserine(IKK)HMM predict
1478Phosphothreonine(PKC)HMM predict
1507O-linkedHMM predict
1508O-linkedHMM predict
1508Phosphoserine(CK1)HMM predict
1511O-linkedHMM predict
1520N-linkedHMM predict
1522Phosphoserine(CDC2)HMM predict
1522PhosphoserineHMM predict
1540O-linkedHMM predict
1542O-linkedHMM predict
1548O-linkedHMM predict
1548Phosphothreonine(CDC2)HMM predict
1548Phosphothreonine(MAPK)HMM predict
1548Phosphothreonine(CDK)HMM predict
1552O-linkedHMM predict
1552O-linkedHMM predict
1560Phosphothreonine(PKC)HMM predict
1561N-linkedHMM predict
1563Phosphoserine(CDC2)HMM predict
1589Phosphothreonine(MAPK)HMM predict
1602N-linkedHMM predict
1604Phosphoserine(CDC2)HMM predict
1608Phosphothreonine(CDC2)HMM predict
1622O-linkedHMM predict
1622O-linkedHMM predict
1624O-linkedHMM predict
1624O-linkedHMM predict
1630Phosphothreonine(MAPK)HMM predict
1630Phosphothreonine(CDK)HMM predict
1634O-linkedHMM predict
1634Phosphothreonine(PKC)HMM predict
1638Phosphothreonine(PKC)HMM predict
1642Phosphothreonine(PKA)HMM predict
1642Phosphothreonine(PKC)HMM predict
1643N-linkedHMM predict
1645Phosphoserine(CDC2)HMM predict
1649Phosphothreonine(CDC2)HMM predict
1671Phosphothreonine(MAPK)HMM predict
1683Phosphothreonine(PKC)HMM predict
1687Phosphoserine(PKA)HMM predict
1697Phosphothreonine(CDC2)HMM predict
1702Phosphoserine(CDC2)HMM predict
1702Phosphoserine(CDK)HMM predict
1702Phosphoserine(IKK)HMM predict
1711O-linkedHMM predict
1711Phosphoserine(CDC2)HMM predict
1711Phosphoserine(ATM)HMM predict
1775Phosphoserine(MAPK)HMM predict
1800Phosphothreonine(PKA)HMM predict
1814Phosphoserine(PKA)HMM predict
1814Phosphoserine(PKG)HMM predict
1814Phosphoserine(CAMK2)HMM predict
1814Phosphoserine(IKK)HMM predict
1934Phosphothreonine(PKC)HMM predict
1968Phosphotyrosine(SRC)HMM predict
1968Phosphotyrosine(Jak)HMM predict
2021S-palmitoylHMM predict
2033Phosphotyrosine(Jak)HMM predict
2061Phosphoserine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014641
  • Location:chr6 30775563-30790933
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 30792648 30793342 694 2062
E2F4 G0GSE7516 30792692 30793563 871 2194
ETS1 JurkatGSE17954 30792506 30793908 1402 2274
FOXA1 MCF7GSE15244 30792692 30793527 835 2176
Fos K562GSE19551 30792260 30793808 1548 2101
H3K4me2 HCT116GSE10453 30791643 30791950 307 863
H3ac HepG2E 30791643 30791925 282 851
H3ac HepG2E 30792283 30793599 1316 2008
LIN9 G0GSE7516 30792613 30793719 1106 2233
LIN9 SGSE7516 30792283 30793672 1389 2044
PHF8 293TGSE20725 30793233 30793742 509 2554
RARA MCF7GSE15244 30792504 30793491 987 2064
RARG MCF7GSE15244 30792648 30793563 915 2172
Rb GrowingGSE19898 30793211 30793482 271 2413
Rb QuiescentGSE19898 30793087 30793583 496 2402
Rb SenescentGSE19898 30792611 30793602 991 2173
Rb shRbSenescenceGSE19898 30793214 30793518 304 2433
TAF k562GSE8489 30791643 30791950 307 863
TAF k562GSE8489 30792283 30793719 1436 2068
USF2 HepG2E 30792283 30793527 1244 1972
hScc1 BcellGSE12603 30792867 30793415 548 2208
hScc1 CdLSGSE12603 30792867 30793635 768 2318
p130 QuiescentGSE19898 30793061 30793583 522 2389
p130 SenescentGSE19898 30792623 30793603 980 2180
p130 shRbQuiescentGSE19898 30792806 30793578 772 2259
p130 shRbSenescentGSE19898 30792677 30793729 1052 2270
p130 G0GSE7516 30792830 30793719 889 2341
p130 SGSE7516 30792320 30793599 1279 2026
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 30770974 30771662 688 4246
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 30778793 30779062 269 0
CTCF G2GSE9613 30781487 30781702 215 0
CTCF G2GSE9613 30783178 30783359 181 0
FoxA1 MCF7MACSdata 30783014 30783281 267 0
RARA MCF7GSE15244 30782787 30783280 493 0
TAF k562GSE8489 30782751 30783034 283 0
TFAP2C MCF7GSE21234 30783104 30783584 480 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-34a hsa-mir-34a 1 18497571
hsa-miR-34a* hsa-mir-34a 1 18497571
hsa-miR-34b hsa-mir-34b 11 18497571
hsa-miR-34b* hsa-mir-34b 11 18497571
hsa-miR-34c-3p hsa-mir-34c 11 18497571
hsa-miR-34c-5p hsa-mir-34c 11 18497571
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


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