AutismKB 2.0

Annotation Detail for CLTC


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Basic Information Top
Gene Symbol:CLTC ( CHC,CHC17,CLH-17,CLTCL2,Hc,KIAA0034 )
Gene Full Name: clathrin, heavy chain (Hc)
Band: 17q23.1
Quick LinksEntrez ID:1213; OMIM: 118955; Uniprot ID:CLH1_HUMAN; ENSEMBL ID: ENSG00000141367; HGNC ID: 2092
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
394Phosphothreonine.
634Phosphotyrosine.
637N6-acetyllysine.
856N6-acetyllysine.
883Phosphotyrosine.
899Phosphotyrosine.
1441N6-acetyllysine.
1477Phosphotyrosine.
1494Phosphoserine.
1501N6-acetyllysine.
Location(AA) Modifications Resource
393PhosphothreoninePhospho.ELM 6.0
394Phosphothreonine.Swiss-Prot 53.0
1476Phosphotyrosine (Src)Phospho.ELM 6.0
1493PhosphoserinePhospho.ELM 6.0
1494Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
136Phosphoserine(ATM)HMM predict
191Phosphoserine(PKG)HMM predict
200Phosphoserine(CAMK2)HMM predict
403Phosphoserine(IKK)HMM predict
403Phosphoserine(PKA)HMM predict
412Phosphoserine(IKK)HMM predict
430Phosphotyrosine(INSR)HMM predict
659Phosphoserine(ATM)HMM predict
720N-linkedHMM predict
722Phosphoserine(ATM)HMM predict
799Phosphotyrosine(EGFR)HMM predict
799Phosphotyrosine(INSR)HMM predict
808N-linkedHMM predict
899Phosphotyrosine(Jak)HMM predict
966Phosphotyrosine(Abl)HMM predict
966Phosphotyrosine(Syk)HMM predict
966Phosphotyrosine(Jak)HMM predict
1019Phosphoserine(CK1)HMM predict
1050Phosphotyrosine(INSR)HMM predict
1078N-linkedHMM predict
1128Phosphotyrosine(Jak)HMM predict
1137Phosphotyrosine(INSR)HMM predict
1167Phosphoserine(PKG)HMM predict
1168Phosphotyrosine(EGFR)HMM predict
1211Phosphotyrosine(Syk)HMM predict
1220N-linkedHMM predict
1223N-linkedHMM predict
1248N-linkedHMM predict
1260S-palmitoylHMM predict
1290Phosphotyrosine(Syk)HMM predict
1368Phosphotyrosine(Syk)HMM predict
1371Phosphotyrosine(INSR)HMM predict
1477Phosphotyrosine(SRC)HMM predict
1634Phosphotyrosine(Abl)HMM predict
1642O-linkedHMM predict
1659TyrosineHMM predict
1664Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004859
  • Location:chr17 55051831-55129098
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 55050861 55052438 1577 182
GABP k562GSE8489 55049907 55051824 1917 966
H3K4me2 HCT116GSE10453 55050302 55051287 985 1037
HIF1 HypoHepG2 55051180 55052299 1119 92
RARA MCF7GSE15244 55050832 55052057 1225 387
RARG MCF7GSE15244 55050796 55051992 1196 438
TAF HelaGSE8489 55049907 55051287 1380 1235
TAF k562GSE8489 55049782 55051824 2042 1029
USF1 HepG2E 55050339 55052057 1718 634
hScc1 BcellGSE12603 55051360 55052029 669 137
hScc1 CdLSGSE12603 55051325 55051992 667 173
p130 SenescentGSE19898 55051036 55052160 1124 234
p130 shRbQuiescentGSE19898 55051018 55051961 943 342
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 55117034 55117599 565 0
H3K4me3 colorectalcancer 55053148 55053340 192 0
H3ac HepG2E 55050228 55054497 4269 0
H3ac HepG2E 55054829 55055275 446 0
KLF4 hESGSE17917 55069865 55070106 241 0
Oct1 H2O2-HelaGSE14283 55062703 55062731 28 0
Oct1 H2O2-HelaGSE14283 55093802 55093841 39 0
P300 T30-glioblastomaGSE21026 55100826 55101536 710 0
PHF8 Hs68minusFBSGSE20725 55050934 55052880 1946 0
PHF8 Hs68plusFBSGSE20725 55050882 55053494 2612 0
RARG MCF7GSE15244 55073295 55073469 174 0
USF2 HepG2E 55050796 55053183 2387 0
p130 QuiescentGSE19898 55052349 55052663 314 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 21070682
hsa-miR-1 hsa-mir-1-1 20 21070682
hsa-miR-122 hsa-mir-122 18 19122656
hsa-miR-122* hsa-mir-122 18 19122656
hsa-miR-128 hsa-mir-128-1 2 21070682
hsa-miR-128 hsa-mir-128-2 3 21070682
hsa-miR-196a hsa-mir-196a-1 17 21070682
hsa-miR-196a hsa-mir-196a-2 12 21070682
hsa-miR-196a* hsa-mir-196a-2 12 21070682
hsa-miR-196b hsa-mir-196b 7 21070682
hsa-miR-24 hsa-mir-24-1 9 21159603
hsa-miR-24 hsa-mir-24-2 19 21159603
hsa-miR-296-3p hsa-mir-296 20 21070682
hsa-miR-296-5p hsa-mir-296 20 21070682
hsa-miR-30a hsa-mir-30a 6 21070682
hsa-miR-30a* hsa-mir-30a 6 21070682
hsa-miR-30b hsa-mir-30b 8 21070682
hsa-miR-30b* hsa-mir-30b 8 21070682
hsa-miR-30c hsa-mir-30c-2 6 21070682
hsa-miR-30c hsa-mir-30c-1 1 21070682
hsa-miR-30c-1* hsa-mir-30c-1 1 21070682
hsa-miR-30c-2* hsa-mir-30c-2 6 21070682
hsa-miR-30d hsa-mir-30d 8 21070682
hsa-miR-30d* hsa-mir-30d 8 21070682
hsa-miR-30e hsa-mir-30e 1 21070682
hsa-miR-30e* hsa-mir-30e 1 21070682
No data
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
11468 mRNA CLTC chr17 55052037 55127254 393 HTC chr17 55117195 55118452Sense/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