AutismKB 2.0

Annotation Detail for ANK1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ANK1 ( ANK,SPH1,SPH2 )
Gene Full Name: ankyrin 1, erythrocytic
Band: 8p11.21
Quick LinksEntrez ID:286; OMIM: 612641; Uniprot ID:ANK1_HUMAN; ENSEMBL ID: ENSG00000029534; HGNC ID: 492
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
834Phosphoserine.
856Phosphoserine (By similarity).
1073Phosphotyrosine (By similarity).
1684Phosphothreonine.
1686Phosphoserine.
Location(AA) Modifications Resource
215PhosphotyrosinePhospho.ELM 6.0
856Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
208Phosphothreonine(MAPK)HMM predict
233N-linkedHMM predict
235Phosphothreonine(CDC2)HMM predict
238N-linkedHMM predict
269Phosphothreonine(CK2)HMM predict
274Phosphothreonine(MAPK)HMM predict
406Phosphothreonine(MAPK)HMM predict
429Phosphoserine(PKB)HMM predict
431N-linkedHMM predict
433O-linkedHMM predict
434N-linkedHMM predict
439Phosphothreonine(MAPK)HMM predict
472Phosphothreonine(MAPK)HMM predict
505Phosphothreonine(MAPK)HMM predict
538Phosphothreonine(MAPK)HMM predict
571Phosphothreonine(MAPK)HMM predict
594Phosphoserine(IKK)HMM predict
594Phosphoserine(CDC2)HMM predict
597Phosphoserine(ATM)HMM predict
620Phosphoserine(PKG)HMM predict
637Phosphothreonine(MAPK)HMM predict
665N-linkedHMM predict
670Phosphothreonine(CDK)HMM predict
670Phosphothreonine(MAPK)HMM predict
765O-linkedHMM predict
779Phosphotyrosine(INSR)HMM predict
805PhosphoserineHMM predict
817PhosphoserineHMM predict
834Phosphoserine(PKG)HMM predict
856Phosphoserine(CDC2)HMM predict
884Phosphotyrosine(Syk)HMM predict
893Phosphoserine(CDC2)HMM predict
907Phosphoserine(CDK)HMM predict
907Phosphoserine(CDC2)HMM predict
925Phosphoserine(PKB)HMM predict
961O-linkedHMM predict
961Phosphothreonine(MAPK)HMM predict
987Phosphoserine(CDC2)HMM predict
1013N-linkedHMM predict
1042Phosphoserine(CK1)HMM predict
1133Phosphothreonine(PKC)HMM predict
1154Phosphoserine(IKK)HMM predict
1202N-linkedHMM predict
1206N-linkedHMM predict
1360N-linkedHMM predict
1378Phosphothreonine(MAPK)HMM predict
1378Phosphothreonine(CDK)HMM predict
1378Phosphothreonine(PKA)HMM predict
1380Phosphothreonine(PKA)HMM predict
1380Phosphothreonine(MAPK)HMM predict
1396O-linkedHMM predict
1396Phosphoserine(IKK)HMM predict
1428Phosphoserine(CK2)HMM predict
1500Phosphothreonine(PKC)HMM predict
1504SulfotyrosineHMM predict
1507Phosphoserine(ATM)HMM predict
1507Phosphoserine(CDC2)HMM predict
1509Phosphoserine(ATM)HMM predict
1523Phosphoserine(MAPK)HMM predict
1574Phosphothreonine(MAPK)HMM predict
1666PhosphoserineHMM predict
1686Phosphoserine(CDC2)HMM predict
1690Phosphoserine(ATM)HMM predict
1747Phosphoserine(ATM)HMM predict
1750Phosphotyrosine(Jak)HMM predict
1750Phosphotyrosine(Syk)HMM predict
1750Phosphotyrosine(EGFR)HMM predict
1770Phosphoserine(CK2)HMM predict
1771Phosphoserine(ATM)HMM predict
1816Phosphothreonine(CK2)HMM predict
1859Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020475
  • Location:chr8 41629901-41774296
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41774964 41775283 319 827
ER Fulvestrant-MCF7GSE14664 41791908 41791946 38 17631
Gata1 K562GSE18868 41773967 41774632 665 3
H3K27me3 colorectalcancer 41776549 41777271 722 2614
Oct1 HelaGSE14283 41791907 41791981 74 17648
hScc1 BcellGSE12603 41788118 41788294 176 13910
hScc1 G2GSE9613 41774108 41775422 1314 469
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 41688860 41689654 794 0
CBP T30-glioblastomaGSE21026 41768721 41769661 940 0
CTCF CD4GSE12889 41678473 41678667 194 0
CTCF CD4SISSRdata 41678473 41678667 194 0
CTCF G2GSE9613 41649233 41649692 459 0
CTCF G2GSE9613 41658220 41658685 465 0
CTCF G2GSE9613 41659675 41660223 548 0
CTCF G2GSE9613 41662641 41663132 491 0
CTCF G2GSE9613 41671472 41672221 749 0
CTCF G2GSE9613 41673618 41674133 515 0
CTCF G2GSE9613 41675773 41676069 296 0
CTCF G2GSE9613 41678167 41679108 941 0
CTCF G2GSE9613 41681079 41681509 430 0
CTCF G2GSE9613 41689562 41689840 278 0
CTCF G2GSE9613 41691554 41691744 190 0
CTCF G2GSE9613 41696239 41696467 228 0
CTCF G2GSE9613 41699870 41700425 555 0
CTCF G2GSE9613 41700816 41700999 183 0
CTCF G2GSE9613 41701944 41702302 358 0
CTCF G2GSE9613 41712713 41713097 384 0
CTCF G2GSE9613 41729180 41729411 231 0
CTCF G2GSE9613 41732396 41732741 345 0
CTCF G2GSE9613 41743901 41744570 669 0
CTCF G2GSE9613 41758025 41758657 632 0
ER E2-MCF7GSE14664 41726553 41726591 38 0
Fos K562GSE19551 41661998 41662391 393 0
Fos K562GSE19551 41768734 41769521 787 0
GATA3 MCF7GSE15244 41748009 41749373 1364 0
Gata2 K562GSE18868 41773277 41774707 1430 0
H3K27me3 colorectalcancer 41772753 41774108 1355 0
H3ac HepG2E 41772753 41773453 700 0
Myc hESGSE17917 41649498 41649752 254 0
NFkBII GM12878GSE19485 41679935 41681363 1428 0
NFkBII GM12878GSE19485 41690065 41691409 1344 0
NFkBII GM12892GSE19485 41690056 41691219 1163 0
NFkBII GM15510GSE19485 41690149 41691272 1123 0
NRSF pAbJurkat 41658253 41658496 243 0
NRSF pAbJurkat 41671995 41672176 181 0
NRSF pAbJurkat 41696063 41696431 368 0
NRSF pAbJurkat 41705246 41705510 264 0
NRSF pAbJurkat 41721890 41722346 456 0
Oct1 HelaGSE14283 41742792 41742834 42 0
P300 T0-glioblastomaGSE21026 41661831 41662486 655 0
P300 T30-glioblastomaGSE21026 41661961 41662876 915 0
P300 T30-glioblastomaGSE21026 41746924 41748312 1388 0
P300 T30-glioblastomaGSE21026 41768282 41769741 1459 0
PolII HeLaGSE12783 41768276 41769697 1421 0
Rb GrowingGSE19898 41769164 41769399 235 0
Rb QuiescentGSE19898 41768802 41768933 131 0
Rb QuiescentGSE19898 41769201 41769392 191 0
Rb SenescentGSE19898 41768917 41769467 550 0
Rb shRbSenescenceGSE19898 41649889 41650122 233 0
STAT1 HeLaGSE12783 41739139 41739977 838 0
STAT1 HeLaGSE12783 41746845 41748141 1296 0
TAF k562GSE8489 41772753 41774032 1279 0
TFAP2C MCF7GSE21234 41747229 41747674 445 0
hScc1 BcellGSE12603 41658220 41658572 352 0
hScc1 BcellGSE12603 41678058 41678994 936 0
hScc1 BcellGSE12603 41700019 41700425 406 0
hScc1 BcellGSE12603 41743648 41744489 841 0
hScc1 CdLSGSE12603 41678058 41678957 899 0
hScc1 CdLSGSE12603 41743582 41744136 554 0
hScc1 G2GSE9613 41678094 41679476 1382 0
hScc1 G2GSE9613 41758128 41758779 651 0
p130 QuiescentGSE19898 41769175 41769392 217 0
p130 SenescentGSE19898 41764668 41764807 139 0
p130 shRbSenescentGSE19898 41769156 41769384 228 0
p63 keratinocytesGSE17611 41716238 41717087 849 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-144 hsa-mir-144 17 20656931
hsa-miR-144* hsa-mir-144 17 20656931
hsa-miR-155 hsa-mir-155 21 20656931
hsa-miR-155* hsa-mir-155 21 20656931
hsa-miR-451 hsa-mir-451 17 20656931
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
25352 EST chr8 41638042 41642003 212 mRNA ANK1 chr8 41632000 41641949Sense/Antisense (SA) pairs

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