AutismKB 2.0

Annotation Detail for CLPTM1


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Basic Information Top
Gene Symbol:CLPTM1 ( - )
Gene Full Name: cleft lip and palate associated transmembrane protein 1
Band: 19q13.32
Quick LinksEntrez ID:1209; OMIM: 604783; Uniprot ID:CLPT1_HUMAN; ENSEMBL ID: ENSG00000104853; HGNC ID: 2087
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
28N-linked (GlcNAc...) (Potential).
119N-linked (GlcNAc...) (Potential).
161N-linked (GlcNAc...) (Potential).
213Phosphothreonine.
216Phosphothreonine.
241N-linked (GlcNAc...) (Potential).
295N-linked (GlcNAc...).
413N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
28N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
119N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
161N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
241N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
295N-linked (GlcNAc...).Swiss-Prot 53.0
413N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
110Phosphoserine(CK2)HMM predict
119N-linkedHMM predict
165Phosphotyrosine(INSR)HMM predict
165Phosphotyrosine(EGFR)HMM predict
200Phosphotyrosine(Jak)HMM predict
251Phosphothreonine(CDC2)HMM predict
284Phosphotyrosine(INSR)HMM predict
291Phosphotyrosine(Syk)HMM predict
292Phosphotyrosine(Jak)HMM predict
295N-linkedHMM predict
338Phosphoserine(CK2)HMM predict
387Phosphoserine(CK1)HMM predict
413N-linkedHMM predict
416N-linkedHMM predict
463Phosphotyrosine(EGFR)HMM predict
463Phosphotyrosine(INSR)HMM predict
471Phosphotyrosine(INSR)HMM predict
471Phosphotyrosine(SRC)HMM predict
471Phosphotyrosine(Syk)HMM predict
622O-linkedHMM predict
622Phosphothreonine(MAPK)HMM predict
624O-linkedHMM predict
624O-linkedHMM predict
628O-linkedHMM predict
629O-linkedHMM predict
630O-linkedHMM predict
633O-linkedHMM predict
638O-linkedHMM predict
640Phosphoserine(IKK)HMM predict
640O-linkedHMM predict
651O-linkedHMM predict
653Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001294
  • Location:chr19 50150477-50188437
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 50149387 50151151 1764 209
H3K4me3 colorectalcancer 50149621 50150294 673 520
NRSF mAbJurkat 50149621 50150402 781 466
P300 T0-glioblastomaGSE21026 50149593 50150709 1116 327
P300 T30-glioblastomaGSE21026 50149406 50151059 1653 245
PHF8 HeLaGSE20725 50149398 50151090 1692 234
RARA MCF7GSE15244 50149724 50150330 606 451
TAF HelaGSE8489 50149621 50150402 781 466
TAF k562GSE8489 50149820 50150366 546 385
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50184281 50184621 340 0
CTCF CD4SISSRdata 50184281 50184621 340 0
CTCF HelaGSE12889 50184375 50184603 228 0
CTCF JurkatGSE12889 50184314 50184606 292 0
CTCF G2GSE9613 50186328 50186685 357 0
H3K4me2 HCT116GSE10453 50150941 50152231 1290 0
H3K4me3 colorectalcancer 50150729 50151789 1060 0
H3ac HepG2E 50149621 50153456 3835 0
NFkBII GM10847GSE19485 50185242 50186727 1485 0
NFkBII GM12878GSE19485 50185247 50186831 1584 0
NFkBII GM12892GSE19485 50185133 50186584 1451 0
NFkBII GM18526GSE19485 50185208 50186563 1355 0
PHF8 Hs68plusFBSGSE20725 50149349 50151738 2389 0
TAF HelaGSE8489 50150941 50151958 1017 0
TAF k562GSE8489 50150796 50152413 1617 0
hScc1 BcellGSE12603 50184271 50184574 303 0
hScc1 BcellGSE12603 50186042 50186370 328 0
hScc1 BcellGSE12603 50187851 50188228 377 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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