AutismKB 2.0

Annotation Detail for LEPREL1


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Basic Information Top
Gene Symbol:LEPREL1 ( FLJ10718,MLAT4,P3H2 )
Gene Full Name: leprecan-like 1
Band: 3q28
Quick LinksEntrez ID:55214; OMIM: 610341; Uniprot ID:P3H2_HUMAN; ENSEMBL ID: ENSG00000090530; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
449N-linked (GlcNAc...) (Potential).
549N-linked (GlcNAc...) (Potential).
708Prevents secretion from ER (Potential).
Location(AA) Modifications Resource
449N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
549N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
29PhosphoserineHMM predict
29Phosphoserine(MAPK)HMM predict
29Phosphoserine(CDC2)HMM predict
60Phosphotyrosine(INSR)HMM predict
119S-palmitoylHMM predict
260SulfotyrosineHMM predict
299Phosphoserine(CDC2)HMM predict
309SulfotyrosineHMM predict
449N-linkedHMM predict
455N-linkedHMM predict
460N-linkedHMM predict
498Phosphoserine(CDC2)HMM predict
498Phosphoserine(CDK)HMM predict
501Phosphothreonine(CDK)HMM predict
501Phosphothreonine(MAPK)HMM predict
501Phosphothreonine(CDC2)HMM predict
549N-linkedHMM predict
610Phosphotyrosine(INSR)HMM predict
631O-linkedHMM predict
658Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018192
  • Location:chr3 191157315-191321411
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Breast-CancerGSE22609 191324409 191325017 608 3302
hScc1 BcellGSE12603 191321204 191321738 534 60
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 191137602 191139016 1414 19007
CTCF G2GSE9613 191138057 191138310 253 19132
CTCF G2GSE9613 191141695 191141955 260 15491
CTCF G2GSE9613 191148703 191149388 685 8270
FOXA1 MCF7GSE15244 191137785 191138680 895 19083
FOXA1 MCF7GSE15244 191141651 191142277 626 15352
FOXA1 MCF7GSE15244 191144426 191145465 1039 12370
FOXA1 MCF7GSE15244 191148102 191148395 293 9067
NRSF-mono JurkatQuESTdata 191146921 191147134 213 10288
P300 T30-glioblastomaGSE21026 191137499 191139012 1513 19060
RARA MCF7GSE15244 191137524 191138850 1326 19129
RARA MCF7GSE15244 191141615 191142277 662 15370
RARA MCF7GSE15244 191144083 191145697 1614 12426
RARA MCF7GSE15244 191148102 191148429 327 9050
RARG MCF7GSE15244 191137705 191138850 1145 19038
RARG MCF7GSE15244 191141615 191142277 662 15370
RARG MCF7GSE15244 191144256 191145660 1404 12358
RARG MCF7GSE15244 191148102 191148429 327 9050
SRF HelaGSE8489 191136957 191139137 2180 19269
TFAP2C MCF7GSE21234 191137800 191138799 999 19016
TFAP2C MCF7GSE21234 191144633 191145684 1051 12157
hScc1 BcellGSE12603 191148667 191149354 687 8305
hScc1 CdLSGSE12603 191147898 191149459 1561 8637
hScc1 G2GSE9613 191137880 191138850 970 18951
hScc1 G2GSE9613 191148138 191149633 1495 8430
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 191254444 191255410 966 0
CTCF CD4GSE12889 191162001 191162306 305 0
CTCF CD4GSE12889 191167826 191168105 279 0
CTCF CD4SISSRdata 191162001 191162306 305 0
CTCF CD4SISSRdata 191167826 191168105 279 0
CTCF G2GSE9613 191157673 191157883 210 0
CTCF G2GSE9613 191158705 191158951 246 0
CTCF G2GSE9613 191161963 191162434 471 0
CTCF G2GSE9613 191167676 191168109 433 0
CTCF G2GSE9613 191170136 191170330 194 0
CTCF G2GSE9613 191217915 191218411 496 0
CTCF G2GSE9613 191320621 191321241 620 0
FoxA1 MCF7MACSdata 191271514 191271828 314 0
NRSF-mono JurkatQuESTdata 191165111 191165346 235 0
NRSF-mono JurkatQuESTdata 191317357 191317603 246 0
Nanog ESGSE20650 191241767 191242737 970 0
Nanog ESGSE20650 191286599 191287223 624 0
Nanog hESGSE18292 191286709 191286971 262 0
P300 T30-glioblastomaGSE21026 191253997 191255563 1566 0
P300 T30-glioblastomaGSE21026 191275954 191278514 2560 0
PAX3-FKHR Rh4GSE19063 191270488 191272554 2066 0
Sox2 hESGSE18292 191286517 191287162 645 0
TFAP2C MCF7GSE21234 191238534 191238976 442 0
hScc1 BcellGSE12603 191167820 191168144 324 0
hScc1 BcellGSE12603 191320621 191320797 176 0
hScc1 CdLSGSE12603 191161810 191162600 790 0
hScc1 CdLSGSE12603 191167481 191168109 628 0
hScc1 CdLSGSE12603 191217951 191218728 777 0
hScc1 CdLSGSE12603 191244694 191245119 425 0
hScc1 CdLSGSE12603 191297605 191298164 559 0
hScc1 CdLSGSE12603 191320621 191321738 1117 0
hScc1 G2GSE9613 191158558 191158951 393 0
hScc1 G2GSE9613 191159508 191159685 177 0
hScc1 G2GSE9613 191161849 191162529 680 0
hScc1 G2GSE9613 191167383 191168332 949 0
hScc1 G2GSE9613 191217915 191218513 598 0
hScc1 G2GSE9613 191319036 191319282 246 0
p63 keratinocytesGSE17611 191238215 191239168 953 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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