AutismKB 2.0

Annotation Detail for OTOF


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Basic Information Top
Gene Symbol:OTOF ( AUNB1,DFNB6,DFNB9,FER1L2,NSRD9 )
Gene Full Name: otoferlin
Band: 2p23.3
Quick LinksEntrez ID:9381; OMIM: 603681; Uniprot ID:OTOF_HUMAN; ENSEMBL ID: ENSG00000115155; HGNC ID: 8515
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
11Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
68N-linkedHMM predict
138Phosphoserine(CK2)HMM predict
146Phosphoserine(ATM)HMM predict
146Phosphoserine(CK1)HMM predict
146PhosphoserineHMM predict
159O-linkedHMM predict
160O-linkedHMM predict
222Phosphoserine(IKK)HMM predict
225O-linkedHMM predict
227O-linkedHMM predict
285Phosphotyrosine(Syk)HMM predict
285Phosphotyrosine(INSR)HMM predict
296Phosphotyrosine(Syk)HMM predict
300Phosphotyrosine(Syk)HMM predict
345Phosphotyrosine(Abl)HMM predict
346Phosphoserine(ATM)HMM predict
372Phosphotyrosine(INSR)HMM predict
393N-linkedHMM predict
521Phosphoserine(PKG)HMM predict
545N-linkedHMM predict
587Phosphoserine(CK1)HMM predict
588Phosphoserine(CK1)HMM predict
597Phosphothreonine(MAPK)HMM predict
672Phosphoserine(CK2)HMM predict
684Phosphoserine(IKK)HMM predict
688Phosphothreonine(CDK)HMM predict
688Phosphothreonine(MAPK)HMM predict
771S-palmitoylHMM predict
772S-palmitoylHMM predict
820Phosphothreonine(PKC)HMM predict
991N-linkedHMM predict
1000N-linkedHMM predict
1082N-linkedHMM predict
1240Phosphoserine(IKK)HMM predict
1242N-linkedHMM predict
1263Phosphoserine(IKK)HMM predict
1263Phosphoserine(CK1)HMM predict
1386Phosphothreonine(PKA)HMM predict
1391Phosphoserine(CK2)HMM predict
1443Phosphoserine(CK1)HMM predict
1443Phosphoserine(CK2)HMM predict
1444Phosphothreonine(CK2)HMM predict
1474Phosphotyrosine(EGFR)HMM predict
1478Phosphotyrosine(Syk)HMM predict
1532Phosphotyrosine(INSR)HMM predict
1603SulfotyrosineHMM predict
1659Phosphothreonine(PKA)HMM predict
1659Phosphothreonine(PKC)HMM predict
1720Phosphothreonine(MAPK)HMM predict
1725Phosphoserine(CDC2)HMM predict
1822Phosphotyrosine(Syk)HMM predict
1989TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_194248
  • Location:chr2 26533575-26635069
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 26634830 26635741 911 216
CTCF G2GSE9613 26638460 26639457 997 3889
Nanog hESGSE18292 26636179 26636424 245 1232
Nanog hESGSE18292 26643891 26644595 704 9174
hScc1 BcellGSE12603 26638496 26639095 599 3726
hScc1 G2GSE9613 26638567 26639095 528 3762
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 26579736 26580093 357 0
CTCF CD4SISSRdata 26579736 26580093 357 0
CTCF JurkatGSE12889 26597649 26597792 143 0
CTCF G2GSE9613 26556670 26557221 551 0
CTCF G2GSE9613 26560754 26561197 443 0
CTCF G2GSE9613 26571211 26571510 299 0
CTCF G2GSE9613 26579341 26580233 892 0
CTCF G2GSE9613 26582305 26582584 279 0
CTCF G2GSE9613 26586827 26587168 341 0
CTCF G2GSE9613 26589510 26590322 812 0
CTCF G2GSE9613 26592857 26593732 875 0
CTCF G2GSE9613 26594809 26595072 263 0
CTCF G2GSE9613 26597587 26597799 212 0
CTCF G2GSE9613 26606049 26606280 231 0
CTCF G2GSE9613 26606658 26606812 154 0
CTCF G2GSE9613 26608772 26608983 211 0
CTCF G2GSE9613 26611920 26612845 925 0
CTCF G2GSE9613 26613249 26614492 1243 0
CTCF G2GSE9613 26631909 26633067 1158 0
GABP k562GSE8489 26558246 26558507 261 0
Gata2 K562GSE18868 26569153 26569743 590 0
HIF1 HypoHepG2 26606735 26607041 306 0
NRSF JurkatGSE13047 26616740 26617168 428 0
NRSF-mono JurkatQuESTdata 26616739 26617167 428 0
NRSF-poly JurkatQuESTdata 26616696 26617175 479 0
Oct1 H2O2-HelaGSE14283 26566879 26566918 39 0
Oct1 H2O2-HelaGSE14283 26609483 26609530 47 0
Oct1 H2O2-HelaGSE14283 26623187 26623216 29 0
Oct1 HelaGSE14283 26566881 26566917 36 0
Oct1 HelaGSE14283 26609485 26609525 40 0
TFAP2C MCF7GSE21234 26554370 26554741 371 0
TFAP2C MCF7GSE21234 26579779 26580272 493 0
VDR GM10855-stimGSE22484 26577744 26579079 1335 0
VDR GM10861-stimGSE22484 26577747 26579006 1259 0
hScc1 BcellGSE12603 26564855 26565661 806 0
hScc1 BcellGSE12603 26586784 26587096 312 0
hScc1 BcellGSE12603 26626920 26627336 416 0
hScc1 G2GSE9613 26597587 26597764 177 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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