AutismKB 2.0

Annotation Detail for AMPH


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Basic Information Top
Gene Symbol:AMPH ( AMPH1 )
Gene Full Name: amphiphysin
Band: 7p14.1
Quick LinksEntrez ID:273; OMIM: 600418; Uniprot ID:AMPH_HUMAN; ENSEMBL ID: ENSG00000078053; HGNC ID: 471
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
6Phosphothreonine.
250Phosphoserine (By similarity).
295Phosphoserine (By similarity).
297Phosphothreonine (By similarity).
506Phosphoserine (By similarity).
Location(AA) Modifications Resource
250Phosphoserine (By similarity).Swiss-Prot 53.0
272Phosphoserine (CDK
276Phosphoserine (CDK
285Phosphoserine (CDK
506Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
85Phosphotyrosine(Syk)HMM predict
167Phosphoserine(PKG)HMM predict
262PhosphoserineHMM predict
262Phosphoserine(CDC2)HMM predict
262Phosphoserine(MAPK)HMM predict
268O-linkedHMM predict
268Phosphoserine(CDC2)HMM predict
272Phosphoserine(MAPK)HMM predict
272Phosphoserine(CDK)HMM predict
272Phosphoserine(CDC2)HMM predict
274O-linkedHMM predict
274O-linkedHMM predict
276Phosphoserine(CDK)HMM predict
278N-linkedHMM predict
280O-linkedHMM predict
285Phosphoserine(MAPK)HMM predict
285Phosphoserine(CDC2)HMM predict
285Phosphoserine(CDK)HMM predict
285O-linkedHMM predict
293Phosphoserine(CDC2)HMM predict
293Phosphoserine(IKK)HMM predict
295Phosphoserine(PKC)HMM predict
297Phosphothreonine(PKC)HMM predict
310Phosphothreonine(MAPK)HMM predict
336Phosphothreonine(CDK)HMM predict
364Phosphothreonine(MAPK)HMM predict
368O-linkedHMM predict
374Phosphoserine(IKK)HMM predict
377Phosphoserine(IKK)HMM predict
433Phosphothreonine(CDK)HMM predict
522Phosphoserine(PKG)HMM predict
578O-linkedHMM predict
581Phosphothreonine(CDK)HMM predict
597Phosphothreonine(MAPK)HMM predict
599O-linkedHMM predict
616Phosphoserine(IKK)HMM predict
689N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001635
  • Location:chr7 38389831-38637544
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 38637509 38638670 1161 545
KLF4 hESGSE17917 38640058 38640312 254 2641
Rb QuiescentGSE19898 38637606 38637844 238 181
Rb SenescentGSE19898 38637498 38637847 349 128
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38380532 38380833 301 9149
CTCF CD4SISSRdata 38380532 38380833 301 9149
CTCF G2GSE9613 38373998 38374789 791 15438
CTCF G2GSE9613 38380633 38381200 567 8915
hScc1 BcellGSE12603 38373782 38374682 900 15600
hScc1 BcellGSE12603 38380561 38380817 256 9143
hScc1 CdLSGSE12603 38374065 38374441 376 15579
hScc1 CdLSGSE12603 38380633 38381091 458 8970
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38405008 38405257 249 0
CTCF G2GSE9613 38570445 38570610 165 0
CTCF G2GSE9613 38636980 38637795 815 0
EZH2 hESGSE13084 38570235 38570715 480 0
FOXA1 MCF7GSE15244 38629698 38630365 667 0
FoxA1 MCF7MACSdata 38629869 38630084 215 0
H3K27me3 colorectalcancer 38635448 38635946 498 0
NRSF JurkatGSE13047 38518634 38519556 922 0
NRSF JurkatSISSRdata 38427073 38427262 189 0
NRSF mAbJurkat 38515440 38516086 646 0
NRSF mAbJurkat 38516805 38517017 212 0
NRSF mAbJurkat 38517320 38520551 3231 0
NRSF-mono JurkatQuESTdata 38427066 38427301 235 0
NRSF-mono JurkatQuESTdata 38518807 38519259 452 0
NRSF-poly JurkatQuESTdata 38426989 38427309 320 0
NRSF-poly JurkatQuESTdata 38518782 38519207 425 0
Nanog hESGSE18292 38458152 38458304 152 0
P300 T30-glioblastomaGSE21026 38590445 38591205 760 0
hScc1 BcellGSE12603 38405008 38405464 456 0
hScc1 CdLSGSE12603 38405008 38405683 675 0
hScc1 CdLSGSE12603 38637015 38637760 745 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
23887 EST chr7 38163191 38203171 47 mRNA AMPH chr7 38196545 38444260Sense/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


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