AutismKB 2.0

Annotation Detail for ELN


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ELN ( FLJ38671,FLJ43523,SVAS,WBS,WS )
Gene Full Name: elastin
Band: 7q11.23
Quick LinksEntrez ID:2006; OMIM: 130160; Uniprot ID:ELN_HUMAN; ENSEMBL ID: ENSG00000049540; HGNC ID: 3327
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
34Hydroxyproline.
65Hydroxyproline; partial.
67Hydroxyproline; partial.
88Hydroxyproline; partial.
104Allysine (By similarity).
1164-hydroxyproline; partial.
156Hydroxyproline; partial.
167Hydroxyproline; partial.
170Hydroxyproline; partial.
177Hydroxyproline; partial.
1904-hydroxyproline; partial.
241Allysine (By similarity).
261Allysine (By similarity).
265Allysine (By similarity).
2834-hydroxyproline; partial.
2864-hydroxyproline; partial.
290Hydroxyproline; partial.
312Allysine (By similarity).
315Allysine (By similarity).
3274-hydroxyproline; partial.
3424-hydroxyproline; partial.
3474-hydroxyproline; partial.
352Hydroxyproline; partial.
355Hydroxyproline; partial.
3604-hydroxyproline; partial.
375Allysine (By similarity).
379Allysine (By similarity).
382Allysine (By similarity).
4154-hydroxyproline; partial.
421Hydroxyproline; partial.
4274-hydroxyproline; partial.
451Allysine (By similarity).
465Hydroxyproline; partial.
467Hydroxyproline; partial.
4814-hydroxyproline; partial.
492Allysine (By similarity).
496Allysine (By similarity).
522Hydroxyproline; partial.
550Hydroxyproline; partial.
558Allysine (By similarity).
562Allysine (By similarity).
566Allysine (By similarity).
5804-hydroxyproline; partial.
5894-hydroxyproline (Probable).
5984-hydroxyproline (Probable).
6074-hydroxyproline; partial.
646Hydroxyproline; partial.
653Allysine (By similarity).
656Allysine (By similarity).
6774-hydroxyproline; partial.
693Allysine (By similarity).
697Allysine (By similarity).
735Allysine (By similarity).
738Allysine (By similarity).
769Hydroxyproline; partial.
772Hydroxyproline; partial.
Location(AA) Modifications Resource
34Hydroxyproline.Swiss-Prot 53.0
65Hydroxyproline; partial.Swiss-Prot 53.0
67Hydroxyproline; partial.Swiss-Prot 53.0
88Hydroxyproline; partial.Swiss-Prot 53.0
104Allysine (By similarity).Swiss-Prot 53.0
116Hydroxyproline; partial.Swiss-Prot 53.0
156Hydroxyproline; partial.Swiss-Prot 53.0
167Hydroxyproline; partial.Swiss-Prot 53.0
170Hydroxyproline; partial.Swiss-Prot 53.0
177Hydroxyproline; partial.Swiss-Prot 53.0
190Hydroxyproline; partial.Swiss-Prot 53.0
241Allysine (By similarity).Swiss-Prot 53.0
261Allysine (By similarity).Swiss-Prot 53.0
265Allysine (By similarity).Swiss-Prot 53.0
286Hydroxyproline; partial.Swiss-Prot 53.0
290Hydroxyproline; partial.Swiss-Prot 53.0
312Allysine (By similarity).Swiss-Prot 53.0
315Allysine (By similarity).Swiss-Prot 53.0
327Hydroxyproline; partial.Swiss-Prot 53.0
342Hydroxyproline; partial.Swiss-Prot 53.0
347Hydroxyproline; partial.Swiss-Prot 53.0
352Hydroxyproline; partial.Swiss-Prot 53.0
355Hydroxyproline; partial.Swiss-Prot 53.0
360Hydroxyproline; partial.Swiss-Prot 53.0
375Allysine (By similarity).Swiss-Prot 53.0
379Allysine (By similarity).Swiss-Prot 53.0
382Allysine (By similarity).Swiss-Prot 53.0
415Hydroxyproline; partial.Swiss-Prot 53.0
421Hydroxyproline; partial.Swiss-Prot 53.0
427Hydroxyproline; partial.Swiss-Prot 53.0
451Allysine (By similarity).Swiss-Prot 53.0
465Hydroxyproline; partial.Swiss-Prot 53.0
467Hydroxyproline; partial.Swiss-Prot 53.0
481Hydroxyproline; partial.Swiss-Prot 53.0
492Allysine (By similarity).Swiss-Prot 53.0
496Allysine (By similarity).Swiss-Prot 53.0
522Hydroxyproline; partial.Swiss-Prot 53.0
558Allysine (By similarity).Swiss-Prot 53.0
562Allysine (By similarity).Swiss-Prot 53.0
566Allysine (By similarity).Swiss-Prot 53.0
580Hydroxyproline; partial.Swiss-Prot 53.0
589Hydroxyproline; partial (Probable).Swiss-Prot 53.0
598Hydroxyproline; partial (Probable).Swiss-Prot 53.0
607Hydroxyproline; partial.Swiss-Prot 53.0
646Hydroxyproline; partial.Swiss-Prot 53.0
653Allysine (By similarity).Swiss-Prot 53.0
656Allysine (By similarity).Swiss-Prot 53.0
677Hydroxyproline; partial.Swiss-Prot 53.0
693Allysine (By similarity).Swiss-Prot 53.0
697Allysine (By similarity).Swiss-Prot 53.0
735Allysine (By similarity).Swiss-Prot 53.0
738Allysine (By similarity).Swiss-Prot 53.0
769Hydroxyproline; partial.Swiss-Prot 53.0
772Hydroxyproline; partial.Swiss-Prot 53.0
Location(AA) Modification Resource
217Phosphotyrosine(INSR)HMM predict
248O-linkedHMM predict
620Phosphoserine(PKG)HMM predict
620Phosphoserine(PKA)HMM predict
633O-linkedHMM predict
633Phosphoserine(ATM)HMM predict
638O-linkedHMM predict
639Phosphothreonine(CDK)HMM predict
641Phosphoserine(CK1)HMM predict
642PhosphoserineHMM predict
642Phosphoserine(CDK)HMM predict
642Phosphoserine(CDC2)HMM predict
642O-linkedHMM predict
768Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000501
  • Location:chr7 73080453-73120964
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 73079178 73079424 246 1153
CTCF CD4SISSRdata 73079178 73079424 246 1153
CTCF HelaGSE12889 73079114 73079360 246 1217
CTCF G2GSE9613 73062183 73063381 1198 17672
CTCF G2GSE9613 73065054 73066143 1089 14855
CTCF G2GSE9613 73070927 73071102 175 9439
CTCF G2GSE9613 73073817 73074504 687 6293
CTCF G2GSE9613 73074962 73075746 784 5100
CTCF G2GSE9613 73076052 73076463 411 4196
CTCF G2GSE9613 73078138 73080142 2004 1314
ER E2-MCF7GSE14664 73075321 73075366 45 5110
P300 T30-glioblastomaGSE21026 73075016 73075912 896 4990
TFAP2C MCF7GSE21234 73072707 73073048 341 7576
TFAP2C MCF7GSE21234 73075155 73075915 760 4919
hScc1 BcellGSE12603 73078455 73078689 234 1882
hScc1 BcellGSE12603 73079198 73079565 367 1072
hScc1 CdLSGSE12603 73078938 73079620 682 1175
hScc1 G2GSE9613 73078100 73080142 2042 1333
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 73120123 73120405 282 0
CTCF CD4SISSRdata 73120123 73120405 282 0
CTCF HelaGSE12889 73120065 73120384 319 0
CTCF G2GSE9613 73080513 73080874 361 0
CTCF G2GSE9613 73084440 73085107 667 0
CTCF G2GSE9613 73085646 73086196 550 0
CTCF G2GSE9613 73086521 73086686 165 0
CTCF G2GSE9613 73091215 73091462 247 0
CTCF G2GSE9613 73091777 73093701 1924 0
CTCF G2GSE9613 73094722 73094986 264 0
CTCF G2GSE9613 73095230 73095590 360 0
CTCF G2GSE9613 73103466 73104389 923 0
CTCF G2GSE9613 73109978 73110235 257 0
CTCF G2GSE9613 73112127 73113458 1331 0
CTCF G2GSE9613 73114087 73114601 514 0
CTCF G2GSE9613 73116931 73117188 257 0
CTCF G2GSE9613 73118879 73119069 190 0
CTCF G2GSE9613 73120225 73120870 645 0
Myc K562GSE19551 73120107 73120514 407 0
P300 T0-glioblastomaGSE21026 73120155 73120685 530 0
P300 T30-glioblastomaGSE21026 73114303 73114880 577 0
STAT1 HeLaGSE12782 73103077 73104735 1658 0
STAT1 HeLaGSE12783 73103012 73104701 1689 0
STAT1 IFNSISSRdata 73103417 73104603 1186 0
Stat6 IL-4-hr4GSE17850 73098196 73098696 500 0
TAF HelaGSE8489 73102484 73102982 498 0
TFAP2C MCF7GSE21234 73103747 73104313 566 0
TFAP2C MCF7GSE21234 73112063 73112873 810 0
hScc1 BcellGSE12603 73096536 73096936 400 0
hScc1 BcellGSE12603 73120225 73120648 423 0
hScc1 CdLSGSE12603 73120225 73120755 530 0
hScc1 G2GSE9613 73103656 73104319 663 0
hScc1 G2GSE9613 73120225 73120941 716 0
p130 shRbQuiescentGSE19898 73084206 73084704 498 0
p130 shRbQuiescentGSE19898 73114153 73114898 745 0
p130 shRbSenescentGSE19898 73114079 73114689 610 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
24165 mRNA ELN chr7 72887168 72927681 75 EST chr7 72918557 72921241Sense/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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved