AutismKB 2.0

Annotation Detail for EFNA5


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Basic Information Top
Gene Symbol:EFNA5 ( AF1,EFL5,EPLG7,GLC1M,LERK7,RAGS )
Gene Full Name: ephrin-A5
Band: 5q21.3
Quick LinksEntrez ID:1946; OMIM: 601535; Uniprot ID:EFNA5_HUMAN; ENSEMBL ID: ENSG00000184349; HGNC ID: 3225
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
37N-linked (GlcNAc...).
Location(AA) Modifications Resource
37N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
203GPI-anchor amidated asparagine(Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
37N-linkedHMM predict
40N-linkedHMM predict
68Phosphoserine(ATM)HMM predict
87Phosphotyrosine(Jak)HMM predict
107Phosphoserine(CDC2)HMM predict
107Phosphoserine(IKK)HMM predict
207Phosphothreonine(PKC)HMM predict
207Phosphothreonine(MAPK)HMM predict
227ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001962
  • Location:chr5 106744249-107034494
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 107037217 107037553 336 2891
CTCF CD4SISSRdata 107037217 107037553 336 2891
CTCF JurkatGSE12889 107037351 107037619 268 2991
CTCF G2GSE9613 107035066 107036484 1418 1281
CTCF G2GSE9613 107036882 107037832 950 2863
FoxA1 MCF7MACSdata 107044435 107044680 245 10063
RARA MCF7GSE15244 107044325 107045558 1233 10447
Rb QuiescentGSE19898 107035599 107035861 262 1236
hScc1 BcellGSE12603 107035626 107035963 337 1300
hScc1 BcellGSE12603 107036927 107037758 831 2848
hScc1 CdLSGSE12603 107037119 107037758 639 2944
hScc1 G2GSE9613 107033058 107035963 2905 16
hScc1 G2GSE9613 107036436 107037856 1420 2652
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 106737355 106737390 35 6877
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 106832801 106833834 1033 0
CTCF CD4GSE12889 106935663 106936013 350 0
CTCF CD4SISSRdata 106935663 106936013 350 0
CTCF G2GSE9613 106935369 106936086 717 0
CTCF G2GSE9613 106972041 106972370 329 0
CTCF G2GSE9613 107033058 107034712 1654 0
ER E2-MCF7GSE14664 106951820 106951864 44 0
ER Fulvestrant-MCF7GSE14664 106951821 106951860 39 0
ER MCF7GSE19013 106934878 106935829 951 0
ER MCF7GSE19013 107031782 107032264 482 0
FOXA1 MCF7GSE15244 106836281 106836921 640 0
FOXA1 MCF7GSE15244 106920453 106921292 839 0
FOXA1 MCF7GSE15244 106935369 106936086 717 0
FoxA1 MCF7MACSdata 106920644 106920874 230 0
KLF4 hESGSE17917 106746716 106746976 260 0
Nanog ESGSE20650 106893127 106893731 604 0
Nanog hESGSE18292 106952893 106953686 793 0
Oct1 H2O2-HelaGSE14283 106752257 106752299 42 0
Oct1 H2O2-HelaGSE14283 106921600 106921628 28 0
Oct1 HelaGSE14283 106747231 106747276 45 0
Oct1 HelaGSE14283 106747929 106747967 38 0
Oct1 HelaGSE14283 106752264 106752300 36 0
Oct1 HelaGSE14283 106755522 106755555 33 0
Oct1 HelaGSE14283 106823700 106823744 44 0
Oct1 HelaGSE14283 106826284 106826323 39 0
Oct1 HelaGSE14283 106831971 106832001 30 0
Oct1 HelaGSE14283 106833045 106833090 45 0
Oct1 HelaGSE14283 106836762 106836840 78 0
Oct1 HelaGSE14283 106840948 106841003 55 0
Oct1 HelaGSE14283 106863339 106863370 31 0
Oct1 HelaGSE14283 106898414 106898478 64 0
Oct1 HelaGSE14283 106915874 106915911 37 0
Oct1 HelaGSE14283 106936845 106936929 84 0
Oct1 HelaGSE14283 106951815 106951853 38 0
Oct1 HelaGSE14283 107002808 107002872 64 0
P300 T0-glioblastomaGSE21026 106752333 106753310 977 0
P300 T30-glioblastomaGSE21026 106744715 106745419 704 0
P300 T30-glioblastomaGSE21026 106832823 106834265 1442 0
P300 T30-glioblastomaGSE21026 106920556 106921766 1210 0
RARA MCF7GSE15244 106789157 106790564 1407 0
RARA MCF7GSE15244 106836029 106837233 1204 0
RARA MCF7GSE15244 106920422 106921525 1103 0
RARA MCF7GSE15244 106935086 106936860 1774 0
STAT1 HeLaGSE12782 106873417 106874526 1109 0
STAT1 HeLaGSE12783 106873417 106874492 1075 0
Sox2 hESGSE18292 106952920 106953527 607 0
TFAP2C MCF7GSE21234 106836156 106836816 660 0
TFAP2C MCF7GSE21234 106905917 106906534 617 0
TFAP2C MCF7GSE21234 106920502 106921290 788 0
TFAP2C MCF7GSE21234 106935544 106936186 642 0
TFAP2C MCF7GSE21234 106940513 106940992 479 0
TFAP2C MCF7GSE21234 106983408 106983750 342 0
VDR GM10855-stimGSE22484 106757542 106760714 3172 0
VDR GM10861-stimGSE22484 106933603 106936919 3316 0
hScc1 BcellGSE12603 106934926 106936123 1197 0
hScc1 BcellGSE12603 107033112 107033251 139 0
hScc1 BcellGSE12603 107033587 107034206 619 0
hScc1 CdLSGSE12603 106934296 106936123 1827 0
hScc1 CdLSGSE12603 107033587 107034170 583 0
hScc1 G2GSE9613 106934787 106935957 1170 0
p63 keratinocytesGSE17611 106931536 106932297 761 0
p63 keratinocytesGSE17611 107009696 107010467 771 0
p63 keratinocytesGSE17611 107018997 107020043 1046 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