AutismKB 2.0

Annotation Detail for APC


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Basic Information Top
Gene Symbol:APC ( BTPS2,DP2,DP2.5,DP3,GS )
Gene Full Name: adenomatous polyposis coli
Band: 5q22.2
Quick LinksEntrez ID:324; OMIM: 611731; Uniprot ID:APC_HUMAN; ENSEMBL ID: ENSG00000134982; HGNC ID: 583
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
780Phosphoserine.
987Phosphoserine.
1038Phosphoserine (By similarity).
1042Phosphoserine.
1180Phosphoserine (By similarity).
1360Phosphoserine.
1371Phosphoserine (By similarity).
1438Phosphothreonine.
1559Phosphoserine (By similarity).
1697Phosphothreonine (By similarity).
1861Phosphoserine.
1863Phosphoserine.
1864Phosphoserine.
2088Phosphoserine.
2093Phosphoserine.
2096Phosphoserine.
2125Phosphoserine.
2143Phosphoserine.
2151Phosphothreonine.
2260Phosphoserine.
2266Phosphothreonine.
2270Phosphoserine.
2283Phosphoserine.
2398Phosphoserine.
2464Phosphoserine.
2469Phosphoserine.
2473Phosphoserine.
2533Phosphoserine.
2535Phosphoserine.
2671Phosphoserine.
2674Phosphoserine.
2676Phosphothreonine.
2679Phosphothreonine.
2710Phosphoserine (By similarity).
2789Phosphoserine.
2806Microtubule tip localization signal.
2835Phosphoserine.
2837Phosphoserine.
2838Phosphotyrosine.
2843PDZ-binding.
Location(AA) Modifications Resource
1038Phosphoserine (By similarity).Swiss-Prot 53.0
1180Phosphoserine (By similarity).Swiss-Prot 53.0
1279Phosphoserine (CK1 epsilon;)Phospho.ELM 6.0
1371Phosphoserine (By similarity).Swiss-Prot 53.0
1392Phosphoserine (CK1 epsilon;)Phospho.ELM 6.0
1697Phosphothreonine (By similarity).Swiss-Prot 53.0
1861Phosphoserine.Swiss-Prot 53.0
1861PhosphoserinePhospho.ELM 6.0
1863Phosphoserine.Swiss-Prot 53.0
1863PhosphoserinePhospho.ELM 6.0
1864PhosphoserinePhospho.ELM 6.0
1864Phosphoserine.Swiss-Prot 53.0
2034PhosphoserinePhospho.ELM 6.0
2054Phosphoserine (PKA
2283Phosphoserine.Swiss-Prot 53.0
2398Phosphoserine.Swiss-Prot 53.0
2398PhosphoserinePhospho.ELM 6.0
2674Phosphoserine (By similarity).Swiss-Prot 53.0
2710Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
54PhosphoserineHMM predict
102Phosphoserine(IKK)HMM predict
111Phosphoserine(ATM)HMM predict
125N-linkedHMM predict
133Phosphotyrosine(Syk)HMM predict
164N-linkedHMM predict
177N-linkedHMM predict
237Phosphoserine(ATM)HMM predict
240Phosphothreonine(CK2)HMM predict
246Phosphoserine(CK1)HMM predict
246Phosphoserine(ATM)HMM predict
293Phosphoserine(CK1)HMM predict
294Phosphoserine(CK1)HMM predict
295Phosphoserine(CK1)HMM predict
296Phosphoserine(CK1)HMM predict
305Phosphothreonine(PKA)HMM predict
340Phosphoserine(ATM)HMM predict
343O-linkedHMM predict
343Phosphoserine(IKK)HMM predict
393Phosphoserine(ATM)HMM predict
457Phosphoserine(CK2)HMM predict
496Phosphothreonine(PKC)HMM predict
507N-linkedHMM predict
559Phosphoserine(CK1)HMM predict
562Phosphothreonine(PKC)HMM predict
584Phosphothreonine(PKC)HMM predict
594N-linkedHMM predict
784O-linkedHMM predict
818N-linkedHMM predict
827N-linkedHMM predict
829O-linkedHMM predict
829O-linkedHMM predict
835Phosphoserine(CK1)HMM predict
836Phosphoserine(CK1)HMM predict
840Phosphoserine(CK1)HMM predict
840Phosphoserine(IKK)HMM predict
851Phosphoserine(CK1)HMM predict
905Phosphoserine(CK1)HMM predict
906Phosphoserine(CK1)HMM predict
906Phosphoserine(IKK)HMM predict
908Phosphoserine(IKK)HMM predict
936N-linkedHMM predict
942N-linkedHMM predict
944N-linkedHMM predict
961N-linkedHMM predict
963O-linkedHMM predict
963Phosphoserine(CK1)HMM predict
965N-linkedHMM predict
966Phosphoserine(CK1)HMM predict
969Phosphoserine(CK1)HMM predict
970Phosphoserine(ATM)HMM predict
973Phosphotyrosine(INSR)HMM predict
982Phosphoserine(PKG)HMM predict
987Phosphoserine(CK2)HMM predict
1042Phosphoserine(CDC2)HMM predict
1042Phosphoserine(IKK)HMM predict
1044Phosphoserine(ATM)HMM predict
1070N-linkedHMM predict
1100Phosphoserine(CDC2)HMM predict
1105MethylarginineHMM predict
1108N-linkedHMM predict
1113N-linkedHMM predict
1124N-linkedHMM predict
1135Phosphotyrosine(Syk)HMM predict
1135SulfotyrosineHMM predict
1142N-linkedHMM predict
1143Phosphotyrosine(INSR)HMM predict
1147Phosphotyrosine(INSR)HMM predict
1148Phosphoserine(CK1)HMM predict
1148Phosphoserine(CK2)HMM predict
1190Phosphoserine(ATM)HMM predict
1200PhosphoserineHMM predict
1202Phosphoserine(CK2)HMM predict
1213Phosphoserine(CK1)HMM predict
1217N-linkedHMM predict
1218O-linkedHMM predict
1219O-linkedHMM predict
1219Phosphoserine(CK1)HMM predict
1220O-linkedHMM predict
1220Phosphothreonine(CDK)HMM predict
1252Phosphoserine(PKG)HMM predict
1276Phosphoserine(PKA)HMM predict
1276Phosphoserine(CK1)HMM predict
1276Phosphoserine(IKK)HMM predict
1279Phosphoserine(CK1)HMM predict
1281Phosphoserine(CK2)HMM predict
1290N-linkedHMM predict
1313Phosphothreonine(PKC)HMM predict
1334Phosphoserine(PKA)HMM predict
1340Phosphoserine(IKK)HMM predict
1360Phosphoserine(CDC2)HMM predict
1360Phosphoserine(CDK)HMM predict
1360PhosphoserineHMM predict
1362Phosphoserine(CK1)HMM predict
1364O-linkedHMM predict
1368Phosphothreonine(PKC)HMM predict
1368Phosphothreonine(CDC2)HMM predict
1368Phosphothreonine(MAPK)HMM predict
1368Phosphothreonine(CDK)HMM predict
1371Phosphoserine(CDC2)HMM predict
1389Phosphoserine(CK1)HMM predict
1389Phosphoserine(IKK)HMM predict
1400Phosphoserine(IKK)HMM predict
1426Phosphoserine(CDC2)HMM predict
1434O-linkedHMM predict
1436O-linkedHMM predict
1438Phosphothreonine(CDK)HMM predict
1438PhosphothreonineHMM predict
1445O-linkedHMM predict
1448O-linkedHMM predict
1448Phosphothreonine(PKC)HMM predict
1459Phosphothreonine(PKC)HMM predict
1505O-linkedHMM predict
1510Phosphoserine(CK1)HMM predict
1535N-linkedHMM predict
1567Phosphoserine(CK2)HMM predict
1567Phosphoserine(ATM)HMM predict
1610Phosphoserine(PKG)HMM predict
1650N-linkedHMM predict
1652O-linkedHMM predict
1653O-linkedHMM predict
1656O-linkedHMM predict
1689Phosphothreonine(PKA)HMM predict
1756O-linkedHMM predict
1773Phosphothreonine(PKA)HMM predict
1774Phosphoserine(CDC2)HMM predict
1774Phosphoserine(IKK)HMM predict
1774PhosphoserineHMM predict
1787Phosphothreonine(PKC)HMM predict
1818N-linkedHMM predict
1819N-linkedHMM predict
1824N-linkedHMM predict
1846Phosphotyrosine(INSR)HMM predict
1846Phosphotyrosine(SRC)HMM predict
1859N-linkedHMM predict
1861Phosphoserine(PKA)HMM predict
1861Phosphoserine(CAMK2)HMM predict
1861Phosphoserine(CK1)HMM predict
1861Phosphoserine(IKK)HMM predict
1908N-linkedHMM predict
1966N-linkedHMM predict
1968Phosphoserine(CK1)HMM predict
1970Phosphoserine(CK1)HMM predict
1971Phosphoserine(CK1)HMM predict
1973Phosphoserine(CK1)HMM predict
1973Phosphoserine(CK2)HMM predict
1995Phosphoserine(ATM)HMM predict
2005O-linkedHMM predict
2024N-linkedHMM predict
2026Phosphoserine(CAMK2)HMM predict
2026Phosphoserine(CK1)HMM predict
2028Phosphoserine(CK1)HMM predict
2029Phosphoserine(CK1)HMM predict
2034Phosphoserine(CK2)HMM predict
2093Phosphoserine(MAPK)HMM predict
2129Phosphoserine(CAMK2)HMM predict
2129Phosphoserine(CK2)HMM predict
2129Phosphoserine(IKK)HMM predict
2132Phosphoserine(CK1)HMM predict
2134O-linkedHMM predict
2134Phosphoserine(CK1)HMM predict
2134Phosphoserine(IKK)HMM predict
2137Phosphoserine(CK1)HMM predict
2238N-linkedHMM predict
2239Phosphoserine(IKK)HMM predict
2240O-linkedHMM predict
2240Phosphoserine(CK1)HMM predict
2241O-linkedHMM predict
2242O-linkedHMM predict
2244Phosphoserine(CDC2)HMM predict
2244Phosphoserine(MAPK)HMM predict
2244Phosphoserine(CDK)HMM predict
2244Phosphoserine(IKK)HMM predict
2244PhosphoserineHMM predict
2255Phosphothreonine(MAPK)HMM predict
2258O-linkedHMM predict
2260Phosphoserine(CDC2)HMM predict
2260Phosphoserine(IKK)HMM predict
2266O-linkedHMM predict
2304Phosphoserine(IKK)HMM predict
2308Phosphothreonine(CDC2)HMM predict
2308Phosphothreonine(MAPK)HMM predict
2308Phosphothreonine(CDK)HMM predict
2310O-linkedHMM predict
2310Phosphoserine(PKA)HMM predict
2323Phosphoserine(CDC2)HMM predict
2328Phosphoserine(PKG)HMM predict
2330Phosphoserine(CDC2)HMM predict
2349O-linkedHMM predict
2350Phosphoserine(CDC2)HMM predict
2350Phosphoserine(IKK)HMM predict
2352O-linkedHMM predict
2352Phosphoserine(IKK)HMM predict
2353O-linkedHMM predict
2355Phosphoserine(IKK)HMM predict
2359O-linkedHMM predict
2359O-linkedHMM predict
2361O-linkedHMM predict
2368Phosphoserine(CDC2)HMM predict
2374Phosphoserine(CAMK2)HMM predict
2377N-linkedHMM predict
2387N-linkedHMM predict
2390Phosphoserine(CK1)HMM predict
2396Phosphoserine(PKG)HMM predict
2396Phosphoserine(PKB)HMM predict
2420Phosphoserine(CK1)HMM predict
2425Phosphoserine(IKK)HMM predict
2451Phosphothreonine(PKC)HMM predict
2466Phosphoserine(CDC2)HMM predict
2466Phosphoserine(MAPK)HMM predict
2468O-linkedHMM predict
2469O-linkedHMM predict
2473Phosphoserine(CDC2)HMM predict
2473Phosphoserine(CDK)HMM predict
2473Phosphoserine(IKK)HMM predict
2473PhosphoserineHMM predict
2475O-linkedHMM predict
2477O-linkedHMM predict
2477O-linkedHMM predict
2477Phosphoserine(ATM)HMM predict
2481Phosphothreonine(MAPK)HMM predict
2492O-linkedHMM predict
2492Phosphoserine(CK1)HMM predict
2512Phosphoserine(CDC2)HMM predict
2533Phosphoserine(IKK)HMM predict
2535Phosphoserine(CDC2)HMM predict
2535PhosphoserineHMM predict
2542N-linkedHMM predict
2546Phosphothreonine(PKC)HMM predict
2552Phosphoserine(CK1)HMM predict
2552Phosphoserine(IKK)HMM predict
2557Phosphoserine(CK1)HMM predict
2563Phosphothreonine(PKC)HMM predict
2569Phosphoserine(PKA)HMM predict
2570O-linkedHMM predict
2578Phosphoserine(CK2)HMM predict
2580Phosphoserine(CK1)HMM predict
2581Phosphoserine(CK1)HMM predict
2586Phosphoserine(CK2)HMM predict
2586PhosphoserineHMM predict
2601Phosphoserine(PKG)HMM predict
2611Phosphothreonine(PKC)HMM predict
2623O-linkedHMM predict
2623O-linkedHMM predict
2624N-linkedHMM predict
2627Phosphoserine(ATM)HMM predict
2629O-linkedHMM predict
2631O-linkedHMM predict
2631Phosphoserine(IKK)HMM predict
2674O-linkedHMM predict
2674Phosphoserine(CDC2)HMM predict
2674Phosphoserine(IKK)HMM predict
2679Phosphothreonine(MAPK)HMM predict
2708N-linkedHMM predict
2752N-linkedHMM predict
2763O-linkedHMM predict
2764Phosphoserine(CDK)HMM predict
2765Phosphoserine(CK2)HMM predict
2767Phosphoserine(CK1)HMM predict
2768Phosphoserine(CK1)HMM predict
2771Phosphoserine(CK1)HMM predict
2771Phosphoserine(IKK)HMM predict
2772Phosphoserine(CDC2)HMM predict
2772Phosphoserine(CDK)HMM predict
2772Phosphoserine(IKK)HMM predict
2774O-linkedHMM predict
2776O-linkedHMM predict
2776Phosphothreonine(PKC)HMM predict
2787N-linkedHMM predict
2789Phosphoserine(CDC2)HMM predict
2794Phosphoserine(IKK)HMM predict
2794Phosphoserine(PKB)HMM predict
2799O-linkedHMM predict
2803O-linkedHMM predict
2811N-linkedHMM predict
2812N-linkedHMM predict
2818Phosphoserine(CK1)HMM predict
2822Phosphoserine(CK1)HMM predict
2822Phosphoserine(IKK)HMM predict
2822PhosphoserineHMM predict
2825Phosphoserine(CK1)HMM predict
2826Phosphoserine(CK1)HMM predict
2826Phosphoserine(IKK)HMM predict
2828O-linkedHMM predict
2828O-linkedHMM predict
2830Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000038
  • Location:chr5 112101482-112209833
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 112088487 112088516 29 12981
Oct1 HelaGSE14283 112088483 112088520 37 12981
USF1 HepG2E 112100552 112102336 1784 39
USF2 HepG2E 112100552 112102272 1720 71
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 112211654 112212074 420 2031
ER Fulvestrant-MCF7GSE14664 112214675 112214717 42 4863
hScc1 BcellGSE12603 112211862 112212074 212 2135
hScc1 CdLSGSE12603 112211791 112212074 283 2099
hScc1 G2GSE9613 112211618 112212074 456 2013
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 112121188 112121475 287 0
CTCF CD4SISSRdata 112121188 112121475 287 0
Myc K562GSE19551 112101029 112102151 1122 0
Oct1 H2O2-HelaGSE14283 112150898 112150926 28 0
Oct1 HelaGSE14283 112125916 112125981 65 0
Oct1 HelaGSE14283 112183303 112183376 73 0
RNAII Tamoxifen-MCF7GSE14664 112122221 112122276 55 0
TFAP2C MCF7GSE21234 112187266 112187601 335 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 19445940
hsa-let-7a hsa-let-7a-2 11 19445940
hsa-let-7a hsa-let-7a-3 22 19445940
hsa-miR-1 hsa-mir-1-2 18 19136465
hsa-miR-1 hsa-mir-1-1 20 19136465
hsa-miR-122 hsa-mir-122 18 19607815
hsa-miR-122* hsa-mir-122 18 19607815
hsa-miR-125a-3p hsa-mir-125a 19 19701500
hsa-miR-125a-5p hsa-mir-125a 19 19701500
hsa-miR-133a hsa-mir-133a-1 18 19136465
hsa-miR-133a hsa-mir-133a-2 20 19136465
hsa-miR-133b hsa-mir-133b 6 19136465
hsa-miR-135a hsa-mir-135a-1 3 18632633
hsa-miR-135a hsa-mir-135a-2 12 18632633
hsa-miR-135a* hsa-mir-135a-1 3 18632633
hsa-miR-135b hsa-mir-135b 1 18632633
hsa-miR-135b* hsa-mir-135b 1 18632633
hsa-miR-143 hsa-mir-143 5 19190970
hsa-miR-143* hsa-mir-143 5 19190970
hsa-miR-148a hsa-mir-148a 7 21068402
hsa-miR-148a hsa-mir-148a 7 19701500
hsa-miR-148a* hsa-mir-148a 7 21068402
hsa-miR-148a* hsa-mir-148a 7 19701500
hsa-miR-148b hsa-mir-148b 12 21068402
hsa-miR-148b* hsa-mir-148b 12 21068402
hsa-miR-150 hsa-mir-150 19 19701500
hsa-miR-150* hsa-mir-150 19 19701500
hsa-miR-152 hsa-mir-152 17 21068402
hsa-miR-155 hsa-mir-155 21 19136465
hsa-miR-155* hsa-mir-155 21 19136465
hsa-miR-17 hsa-mir-17 13 19136465
hsa-miR-17* hsa-mir-17 13 19136465
hsa-miR-183 hsa-mir-183 7 19047896
hsa-miR-183* hsa-mir-183 7 19047896
hsa-miR-192 hsa-mir-192 11 19047896
hsa-miR-192* hsa-mir-192 11 19047896
hsa-miR-205 hsa-mir-205 1 19190970
hsa-miR-21 hsa-mir-21 17 20489163
hsa-miR-21 hsa-mir-21 17 19924305
hsa-miR-21 hsa-mir-21 17 19136465
hsa-miR-21* hsa-mir-21 17 20489163
hsa-miR-21* hsa-mir-21 17 19924305
hsa-miR-21* hsa-mir-21 17 19136465
hsa-miR-210 hsa-mir-210 11 19826008
hsa-miR-214 hsa-mir-214 1 19701500
hsa-miR-214* hsa-mir-214 1 19701500
hsa-miR-34a hsa-mir-34a 1 20883704
hsa-miR-34a* hsa-mir-34a 1 20883704
hsa-miR-9 hsa-mir-9-1 1 21060828
hsa-miR-9 hsa-mir-9-2 5 21060828
hsa-miR-9* hsa-mir-9-1 1 21060828
hsa-miR-9* hsa-mir-9-2 5 21060828
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