AutismKB 2.0

Annotation Detail for KIAA1244


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Basic Information Top
Gene Symbol:KIAA1244 ( A7322,ARFGEF3,BIG3,C6orf92,FLJ32064,dJ171N11.1 )
Gene Full Name: KIAA1244
Band: 6q23.3
Quick LinksEntrez ID:57221; OMIM: NA; Uniprot ID:BIG3_HUMAN; ENSEMBL ID: ENSG00000112379; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1651Phosphoserine.
1991Phosphoserine.
Location(AA) Modifications Resource
1651Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
104Phosphothreonine(CDK)HMM predict
222N-linkedHMM predict
240Phosphoserine(CK1)HMM predict
242O-linkedHMM predict
243O-linkedHMM predict
282O-linkedHMM predict
283Phosphoserine(IKK)HMM predict
283O-linkedHMM predict
283O-linkedHMM predict
284Phosphoserine(CK1)HMM predict
285O-linkedHMM predict
287O-linkedHMM predict
288Phosphoserine(IKK)HMM predict
295Phosphoserine(ATM)HMM predict
295Phosphoserine(MAPK)HMM predict
308O-linkedHMM predict
310O-linkedHMM predict
372Phosphoserine(CDC2)HMM predict
385Phosphothreonine(CK2)HMM predict
385Phosphothreonine(PKC)HMM predict
393Phosphoserine(PKG)HMM predict
441Phosphoserine(ATM)HMM predict
491Phosphothreonine(CDC2)HMM predict
508O-linkedHMM predict
509O-linkedHMM predict
538Phosphoserine(CDC2)HMM predict
547Phosphothreonine(PKC)HMM predict
597Phosphoserine(CK1)HMM predict
643Phosphothreonine(MAPK)HMM predict
689Phosphoserine(PKA)HMM predict
720N-linkedHMM predict
754Phosphotyrosine(EGFR)HMM predict
759Phosphothreonine(PKA)HMM predict
782Phosphoserine(ATM)HMM predict
878Phosphothreonine(MAPK)HMM predict
878Phosphothreonine(CDK)HMM predict
1030Phosphoserine(ATM)HMM predict
1034Phosphoserine(ATM)HMM predict
1041Phosphoserine(ATM)HMM predict
1072O-linkedHMM predict
1074O-linkedHMM predict
1108O-linkedHMM predict
1148Phosphoserine(CAMK2)HMM predict
1173Phosphothreonine(PKC)HMM predict
1208Phosphoserine(IKK)HMM predict
1226Phosphoserine(PKA)HMM predict
1226Phosphoserine(PKG)HMM predict
1310N-linkedHMM predict
1433Phosphoserine(CK1)HMM predict
1490Phosphothreonine(CDC2)HMM predict
1490Phosphothreonine(MAPK)HMM predict
1521Phosphotyrosine(INSR)HMM predict
1554Phosphotyrosine(INSR)HMM predict
1631Phosphoserine(CDK)HMM predict
1649O-linkedHMM predict
1651Phosphoserine(CDC2)HMM predict
1651Phosphoserine(CDK)HMM predict
1651Phosphoserine(ATM)HMM predict
1653O-linkedHMM predict
1688PhosphoserineHMM predict
1741Phosphoserine(CDC2)HMM predict
1761Phosphotyrosine(INSR)HMM predict
1831O-linkedHMM predict
1848Phosphoserine(CK1)HMM predict
1856PhosphoserineHMM predict
1857Phosphoserine(CK1)HMM predict
1857Phosphoserine(CK2)HMM predict
1945Phosphoserine(IKK)HMM predict
1947Phosphoserine(CK2)HMM predict
1948Phosphoserine(CK1)HMM predict
1951O-linkedHMM predict
1960Phosphothreonine(MAPK)HMM predict
1960Phosphothreonine(CDK)HMM predict
1967Phosphoserine(ATM)HMM predict
1967Phosphoserine(CK1)HMM predict
1991Phosphoserine(CDK)HMM predict
1991Phosphoserine(CDC2)HMM predict
1991Phosphoserine(MAPK)HMM predict
2000Phosphoserine(PKC)HMM predict
2027Phosphothreonine(PKC)HMM predict
2095Phosphoserine(PKG)HMM predict
2097Phosphoserine(IKK)HMM predict
2097Phosphoserine(PKB)HMM predict
2097O-linkedHMM predict
2169ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020340
  • Location:chr6 138569923-138701628
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 138561260 138561599 339 8494
Oct4 hESGSE21916 138561237 138561699 462 8456
Sox2 hESGSE18292 138561322 138561665 343 8430
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Stat6 IL-4-hr4GSE17850 138710521 138711196 675 9230
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 138613406 138614183 777 0
CBP T30-glioblastomaGSE21026 138651316 138652145 829 0
CTCF CD4GSE12889 138650147 138650333 186 0
CTCF CD4SISSRdata 138650147 138650333 186 0
CTCF G2GSE9613 138609950 138610092 142 0
CTCF G2GSE9613 138616599 138616880 281 0
CTCF G2GSE9613 138625646 138626162 516 0
CTCF G2GSE9613 138648833 138648965 132 0
CTCF G2GSE9613 138649702 138650765 1063 0
CTCF G2GSE9613 138652490 138652733 243 0
CTCF G2GSE9613 138671206 138671424 218 0
FOXA1 MCF7GSE15244 138589634 138590967 1333 0
FOXA1 MCF7GSE15244 138593801 138595297 1496 0
Fos K562GSE19551 138698969 138699451 482 0
FoxA1 MCF7MACSdata 138594212 138594776 564 0
Nanog hESGSE18292 138693800 138694821 1021 0
Oct1 H2O2-HelaGSE14283 138672533 138672569 36 0
Oct1 HelaGSE14283 138617166 138617207 41 0
Oct1 HelaGSE14283 138672533 138672569 36 0
Oct1 HelaGSE14283 138688487 138688528 41 0
P300 T30-glioblastomaGSE21026 138613428 138614301 873 0
P300 T30-glioblastomaGSE21026 138651268 138652208 940 0
RARA MCF7GSE15244 138593838 138595022 1184 0
Rb GrowingGSE19898 138612649 138612809 160 0
TAF HelaGSE8489 138625322 138625494 172 0
TAF k562GSE8489 138612553 138613341 788 0
TFAP2C MCF7GSE21234 138590216 138590908 692 0
hScc1 G2GSE9613 138648664 138648965 301 0
Validated miRNA targets Top
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
23239 mRNA KIAA1244 chr6 138569923 138701629 2502 mRNA PBOV1 chr6 138578819 138581321 Non-exonic Bidirectional (NOB) 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


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