AutismKB 2.0

Annotation Detail for LARGE


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Basic Information Top
Gene Symbol:LARGE ( KIAA0609,MDC1D )
Gene Full Name: like-glycosyltransferase
Band: 22q12.3
Quick LinksEntrez ID:9215; OMIM: 603590; Uniprot ID:LARGE_HUMAN; ENSEMBL ID: ENSG00000133424; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
97N-linked (GlcNAc...) (Potential).
122N-linked (GlcNAc...) (Potential).
148N-linked (GlcNAc...) (Potential).
272N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
97N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
122N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
148N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
272N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
43Phosphoserine(CDK)HMM predict
43Phosphoserine(IKK)HMM predict
43Phosphoserine(CDC2)HMM predict
47Phosphoserine(ATM)HMM predict
84Phosphoserine(PKG)HMM predict
92PhosphoserineHMM predict
97N-linkedHMM predict
122N-linkedHMM predict
176Phosphoserine(CK2)HMM predict
220Phosphotyrosine(INSR)HMM predict
272N-linkedHMM predict
331Phosphoserine(IKK)HMM predict
370Phosphotyrosine(Syk)HMM predict
427Phosphoserine(CK1)HMM predict
435Phosphoserine(CK2)HMM predict
463SulfotyrosineHMM predict
475O-linkedHMM predict
647Phosphothreonine(CDC2)HMM predict
647Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004737
  • Location:chr22 31999062-32646409
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 32647161 32647390 229 866
Rb GrowingGSE19898 32647827 32648044 217 1526
Rb GrowingGSE19898 32648239 32648624 385 2022
Rb QuiescentGSE19898 32647182 32647366 184 865
Rb SenescentGSE19898 32647840 32648108 268 1565
hScc1 BcellGSE12603 32646969 32647369 400 760
hScc1 BcellGSE12603 32647827 32648480 653 1744
hScc1 CdLSGSE12603 32649634 32649939 305 3377
hScc1 G2GSE9613 32649634 32649939 305 3377
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 32028078 32028330 252 0
CTCF CD4GSE12889 32305561 32305837 276 0
CTCF CD4SISSRdata 32028078 32028330 252 0
CTCF CD4SISSRdata 32305561 32305837 276 0
CTCF HelaGSE12889 32305528 32305755 227 0
CTCF JurkatGSE12889 32000290 32000480 190 0
CTCF JurkatGSE12889 32028082 32028262 180 0
CTCF G2GSE9613 32000125 32000747 622 0
CTCF G2GSE9613 32028143 32028569 426 0
CTCF G2GSE9613 32245337 32245664 327 0
CTCF G2GSE9613 32305436 32305913 477 0
CTCF G2GSE9613 32599569 32599798 229 0
ER MCF7GSE19013 32266226 32266628 402 0
ER MCF7GSE19013 32483864 32484377 513 0
ER MCF7GSE19013 32586271 32586977 706 0
ER MCF7GSE19013 32591020 32591704 684 0
FOXA1 MCF7GSE15244 32061842 32062059 217 0
FOXA1 MCF7GSE15244 32266000 32266577 577 0
FOXA1 MCF7GSE15244 32287575 32287904 329 0
FOXA1 MCF7GSE15244 32577294 32577533 239 0
FOXA1 MCF7GSE15244 32592988 32593395 407 0
FoxA1 MCF7MACSdata 32239898 32240301 403 0
FoxA1 MCF7MACSdata 32266308 32266553 245 0
H3ac HepG2E 32191447 32191727 280 0
H3ac HepG2E 32302996 32303756 760 0
H3ac HepG2E 32643798 32644669 871 0
H3ac HepG2E 32645158 32645750 592 0
KLF4 hESGSE17917 32266950 32267107 157 0
Myc hESGSE17917 32548770 32548949 179 0
NFkBII GM12878GSE19485 32197788 32199671 1883 0
NFkBII GM12892GSE19485 32197996 32199322 1326 0
NRSF JurkatGSE13047 32308795 32309259 464 0
NRSF JurkatSISSRdata 32308913 32309165 252 0
NRSF mAbJurkat 32307822 32310335 2513 0
NRSF-mono JurkatQuESTdata 32308912 32309243 331 0
NRSF-poly JurkatQuESTdata 32308899 32309230 331 0
Nanog ESGSE20650 32323292 32323675 383 0
Nanog ESGSE20650 32548099 32548518 419 0
Nanog hESGSE18292 32323294 32323643 349 0
Nanog hESGSE18292 32548195 32548496 301 0
Oct4 hESGSE17917 32266947 32267114 167 0
Oct4 hESGSE17917 32548192 32548661 469 0
Oct4 hESGSE21916 32218303 32218623 320 0
Oct4 hESGSE21916 32548066 32548557 491 0
P300 T30-glioblastomaGSE21026 32163852 32164865 1013 0
P300 T30-glioblastomaGSE21026 32201941 32204022 2081 0
P300 T30-glioblastomaGSE21026 32592944 32593620 676 0
P300 T30-glioblastomaGSE21026 32609185 32610246 1061 0
RARA MCF7GSE15244 32266000 32266577 577 0
RARA MCF7GSE15244 32269005 32269565 560 0
RARA MCF7GSE15244 32578092 32578514 422 0
RARG MCF7GSE15244 32266000 32266577 577 0
RARG MCF7GSE15244 32268763 32269565 802 0
RUNX JurkatGSE17954 32418460 32418560 100 0
Rb GrowingGSE19898 32010877 32011072 195 0
Rb shRbSenescenceGSE19898 32079824 32080063 239 0
TFAP2C MCF7GSE21234 32577993 32578515 522 0
TFAP2C MCF7GSE21234 32607753 32608029 276 0
TFAP2C MCF7GSE21234 32609320 32609999 679 0
USF1 HepG2E 32266000 32266498 498 0
USF2 HepG2E 32266000 32266577 577 0
VDR GM10861-stimGSE22484 32293531 32295825 2294 0
hScc1 BcellGSE12603 32000025 32000984 959 0
hScc1 BcellGSE12603 32027915 32028569 654 0
hScc1 BcellGSE12603 32245250 32245664 414 0
hScc1 BcellGSE12603 32305436 32306021 585 0
hScc1 BcellGSE12603 32340684 32341005 321 0
hScc1 BcellGSE12603 32399272 32399474 202 0
hScc1 BcellGSE12603 32643835 32644049 214 0
hScc1 BcellGSE12603 32645599 32646382 783 0
hScc1 CdLSGSE12603 31999925 32000712 787 0
hScc1 CdLSGSE12603 32027808 32028569 761 0
hScc1 CdLSGSE12603 32245146 32245814 668 0
hScc1 CdLSGSE12603 32305436 32306049 613 0
hScc1 CdLSGSE12603 32643363 32644188 825 0
hScc1 G2GSE9613 32245250 32245694 444 0
hScc1 G2GSE9613 32305436 32305951 515 0
p130 QuiescentGSE19898 32020123 32020297 174 0
p130 QuiescentGSE19898 32598111 32598315 204 0
p130 SenescentGSE19898 32593133 32593384 251 0
p130 shRbSenescentGSE19898 32593609 32593868 259 0
p63 keratinocytesGSE17611 32076558 32077434 876 0
p63 keratinocytesGSE17611 32163889 32164920 1031 0
p63 keratinocytesGSE17611 32323379 32324273 894 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
17389 mRNA chr22 32445566 32471355 25789 mRNA LARGE chr22 31993616 32640964 Non-exonic Bidirectional (NOB) 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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