AutismKB 2.0

Annotation Detail for GPHN


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Basic Information Top
Gene Symbol:GPHN ( GEPH,GPH,GPHRYN,KIAA1385 )
Gene Full Name: gephyrin
Band: 14q23.3
Quick LinksEntrez ID:10243; OMIM: 603930; Uniprot ID:GEPH_HUMAN; ENSEMBL ID: ENSG00000171723; HGNC ID: 15465
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
188Phosphoserine.
194Phosphoserine.
266Phosphothreonine.
270Phosphoserine.
286Phosphothreonine.
305Phosphoserine (By similarity).
Location(AA) Modifications Resource
188Phosphoserine (By similarity).Swiss-Prot 53.0
194Phosphoserine (By similarity).Swiss-Prot 53.0
266Phosphothreonine.Swiss-Prot 53.0
286Phosphothreonine.Swiss-Prot 53.0
305Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
96Phosphothreonine(MAPK)HMM predict
96Phosphothreonine(CDK)HMM predict
121N-linkedHMM predict
188Phosphoserine(ATM)HMM predict
188Phosphoserine(CDK)HMM predict
188O-linkedHMM predict
188Phosphoserine(MAPK)HMM predict
194Phosphoserine(CDC2)HMM predict
194O-linkedHMM predict
198O-linkedHMM predict
199O-linkedHMM predict
200Phosphoserine(CDK)HMM predict
200Phosphoserine(CDC2)HMM predict
222Phosphoserine(IKK)HMM predict
227Phosphothreonine(PKC)HMM predict
231Phosphoserine(CK1)HMM predict
232Phosphoserine(CK1)HMM predict
233O-linkedHMM predict
262O-linkedHMM predict
262Phosphoserine(IKK)HMM predict
265O-linkedHMM predict
266Phosphothreonine(MAPK)HMM predict
266Phosphothreonine(CDK)HMM predict
266O-linkedHMM predict
268O-linkedHMM predict
270Phosphoserine(CDK)HMM predict
283Phosphoserine(IKK)HMM predict
295Phosphoserine(CK1)HMM predict
702Phosphoserine(PKB)HMM predict
736LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001024218
  • Location:chr14 66043877-66718275
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 66043567 66043977 410 106
H3ac HepG2E 66043498 66043977 479 140
Oct1 HelaGSE14283 66041740 66041773 33 2121
RARA MCF7GSE15244 66043498 66044197 699 30
TAF k562GSE8489 66043498 66044011 513 123
p63 keratinocytesGSE17611 66039751 66040426 675 3789
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 66160933 66161063 130 0
CTCF CD4GSE12889 66702905 66703126 221 0
CTCF CD4SISSRdata 66160933 66161063 130 0
CTCF CD4SISSRdata 66702905 66703126 221 0
CTCF G2GSE9613 66044197 66045079 882 0
ER E2-MCF7GSE14664 66353602 66353638 36 0
ER E2-MCF7GSE14664 66637184 66637220 36 0
ER E2-MCF7GSE14664 66691793 66691828 35 0
Fos K562GSE19551 66592582 66593121 539 0
FoxA1 MCF7MACSdata 66468969 66469371 402 0
H3K4me3 colorectalcancer 66045791 66046496 705 0
LIN9 G0GSE7516 66043800 66044672 872 0
LIN9 SGSE7516 66043937 66044637 700 0
Myc K562GSE19551 66702932 66703195 263 0
NRSF JurkatGSE13047 66046193 66047131 938 0
NRSF mAbJurkat 66045896 66047611 1715 0
NRSF mAbJurkat 66079735 66079906 171 0
NRSF-mono JurkatQuESTdata 66078108 66078383 275 0
NRSF-poly JurkatQuESTdata 66078121 66078442 321 0
Nanog ESGSE20650 66581122 66581351 229 0
Nanog ESGSE20650 66648840 66649217 377 0
Nanog hESGSE18292 66252767 66253051 284 0
Nanog hESGSE18292 66648940 66649384 444 0
Oct1 H2O2-HelaGSE14283 66058354 66058383 29 0
Oct1 H2O2-HelaGSE14283 66143331 66143362 31 0
Oct1 H2O2-HelaGSE14283 66246857 66246886 29 0
Oct1 H2O2-HelaGSE14283 66253429 66253456 27 0
Oct1 H2O2-HelaGSE14283 66270201 66270230 29 0
Oct1 H2O2-HelaGSE14283 66451142 66451170 28 0
Oct1 H2O2-HelaGSE14283 66500159 66500189 30 0
Oct1 H2O2-HelaGSE14283 66551987 66552028 41 0
Oct1 HelaGSE14283 66058355 66058391 36 0
Oct1 HelaGSE14283 66091384 66091425 41 0
Oct1 HelaGSE14283 66094708 66094734 26 0
Oct1 HelaGSE14283 66246847 66246894 47 0
Oct1 HelaGSE14283 66270201 66270230 29 0
Oct1 HelaGSE14283 66284240 66284271 31 0
Oct1 HelaGSE14283 66342234 66342265 31 0
Oct1 HelaGSE14283 66353606 66353639 33 0
Oct1 HelaGSE14283 66391995 66392039 44 0
Oct1 HelaGSE14283 66424830 66424859 29 0
Oct1 HelaGSE14283 66441847 66441890 43 0
Oct1 HelaGSE14283 66451143 66451174 31 0
Oct1 HelaGSE14283 66540661 66540724 63 0
Oct1 HelaGSE14283 66540958 66540999 41 0
Oct1 HelaGSE14283 66551979 66552028 49 0
Oct1 HelaGSE14283 66638787 66638820 33 0
Oct1 HelaGSE14283 66682670 66682738 68 0
Oct1 HelaGSE14283 66687465 66687537 72 0
Oct4 ESGSE20650 66581089 66581247 158 0
PAX3-FKHR Rh4GSE19063 66185746 66187601 1855 0
PHF8 HeLaGSE20725 66043695 66045290 1595 0
RARA MCF7GSE15244 66319959 66320348 389 0
RARA MCF7GSE15244 66687827 66688074 247 0
RARG MCF7GSE15244 66043724 66044197 473 0
RARG MCF7GSE15244 66319959 66320348 389 0
Rb QuiescentGSE19898 66044207 66044974 767 0
Rb SenescentGSE19898 66044009 66045309 1300 0
Rb shRbSenescenceGSE19898 66044241 66044695 454 0
Sox2 hESGSE18292 66568340 66568840 500 0
Stat6 IL-4-hr1GSE17850 66289590 66290109 519 0
TAF k562GSE8489 66169275 66169563 288 0
TFAP2C MCF7GSE21234 66468456 66469491 1035 0
TFAP2C MCF7GSE21234 66654789 66655110 321 0
USF1 HepG2E 66262944 66263155 211 0
VDR GM10855-stimGSE22484 66185674 66188699 3025 0
VDR GM10861-stimGSE22484 66185464 66188395 2931 0
hScc1 BcellGSE12603 66044223 66046108 1885 0
hScc1 BcellGSE12603 66702868 66703041 173 0
hScc1 CdLSGSE12603 66044326 66045572 1246 0
p130 QuiescentGSE19898 66044218 66044581 363 0
p130 SenescentGSE19898 66044236 66044744 508 0
p130 SenescentGSE19898 66469094 66469452 358 0
p130 shRbQuiescentGSE19898 66043945 66044942 997 0
p130 shRbSenescentGSE19898 66043991 66044924 933 0
p130 G0GSE7516 66044048 66044672 624 0
p63 keratinocytesGSE17611 66395503 66396446 943 0
p63 keratinocytesGSE17611 66468482 66469783 1301 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1271 hsa-mir-1271 5 20864449
hsa-miR-96 hsa-mir-96 7 20864449
hsa-miR-96* hsa-mir-96 7 20864449
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