基因Page:CLTCL1

概括?
基因ID 8218
Symbol CLTCL1
同义词 CHC22|CLH22|CLTCL|CLTD
描述 clathrin heavy chain like 1
参考 MIM:601273|HGNC:HGNC:2093|Ensembl:ENSG00000070371|HPRD:03172|Vega:OTTHUMG00000150109
基因type protein-coding
Map location 22Q11.21
Pascal p-value 0.023
TADA p-value 0.023
Fetal beta 1.002
eGene Anterior cingulate cortex BA24
Cerebellar Hemisphere
Cortex
额叶皮质BA9
迈尔斯的顺式和跨性别
Meta

数据源中的基因
基因集名称 基因组方法 描述 Info
CNV:YES Copy number variation studies 手动策划
CV:PGCnp Genome-wide Association Study GWAS
DNM:Gulsuner_2013 Whole Exome Sequencing analysis 155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.
GSMA_I 基因组扫描荟萃分析 PSR：0.031
Expression 基因表达的荟萃分析 Pvalue: 1.421

第一节遗传学和表观遗传学注释

@DNM table

基因 Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
CLTCL1 chr22 19213768 C G NM_001835
NM_007098		 p.641V>L
p.641V>L		 错过
错过		 精神分裂症 DNM:Gulsuner_2013

@eQTL annotation

SNP ID Chromosome Position eGene 基因Entrez ID pvalue qvalue TSS distance eQTL type
rs10994209 chr10 61877705 CLTCL1 8218 0.08 trans
rs712962 22 19156708 CLTCL1 ENSG00000070371.11 9.252E-7 0.03 122531 gtex_brain_ba24
rs712961 22 19157000 CLTCL1 ENSG00000070371.11 9.172E-7 0.03 122239 gtex_brain_ba24
rs807674 22 19158593 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 120646 gtex_brain_ba24
RS1206471 22 19158756 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 120483 gtex_brain_ba24
rs2854642 22 19165216 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 114023 gtex_brain_ba24
RS2793062 22 19167801 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 111438 gtex_brain_ba24
rs947109 22 19169332 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 109907 gtex_brain_ba24
rs947108 22 19170181 CLTCL1 ENSG00000070371.11 1.105E-6 0.03 109058 gtex_brain_ba24
rs1633405 22 19171345 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 107894 gtex_brain_ba24
rs1780641 22 19172321 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 106918 gtex_brain_ba24
rs1771542 22 19172939 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 106300 gtex_brain_ba24
rs1771541 22 19173350 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 105889 gtex_brain_ba24
RS1134478 22 19174524 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 104715 gtex_brain_ba24
rs1633394 22 19179601 CLTCL1 ENSG00000070371.11 9.976E-7 0.03 99638 gtex_brain_ba24
rs1633396 22 19181319 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 97920 gtex_brain_ba24
rs1771547 22 19181473 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 97766 gtex_brain_ba24
rs947110 22 19182874 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 96365 gtex_brain_ba24
rs370198972 22 19183157 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 96082 gtex_brain_ba24
rs1633399 22 19183787 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 95452 gtex_brain_ba24
rs807550 22 19185056 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 94183 gtex_brain_ba24
rs807549 22 19185606 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 93633 gtex_brain_ba24
rs712957 22 19187009 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 92230 gtex_brain_ba24
RS812660 22 19188078 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 91161 gtex_brain_ba24
rs1633404 22 19189027 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 90212 gtex_brain_ba24
rs1780644 22 19192905 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 86334 gtex_brain_ba24
RS1615751 22 19193263 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 85976 gtex_brain_ba24
rs712956 22 19195296 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 83943 gtex_brain_ba24
rs807547 22 19195680 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 83559 gtex_brain_ba24
rs377619581 22 19196673 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 82566 gtex_brain_ba24
rs712955 22 19196680 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 82559 gtex_brain_ba24
rs712954 22 19196728 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 82511 gtex_brain_ba24
rs712953 22 19196892 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 82347 gtex_brain_ba24
rs712952 22 19197949 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 81290 gtex_brain_ba24
rs712949 22 19204392 CLTCL1 ENSG00000070371.11 9.391E-7 0.03 74847 gtex_brain_ba24
rs807470 22 19204805 CLTCL1 ENSG00000070371.11 9.599E-7 0.03 74434 gtex_brain_ba24
rs807472 22 19204897 CLTCL1 ENSG00000070371.11 9.391E-7 0.03 74342 gtex_brain_ba24
rs807473 22 19205043 CLTCL1 ENSG00000070371.11 1.077E-6 0.03 74196 gtex_brain_ba24
rs1206536 22 19205572 CLTCL1 ENSG00000070371.11 9.391E-7 0.03 73667 gtex_brain_ba24
rs712947 22 19207763 CLTCL1 ENSG00000070371.11 9.4e-7 0.03 71476 gtex_brain_ba24
rs712946 22 19208193 CLTCL1 ENSG00000070371.11 9.4e-7 0.03 71046 gtex_brain_ba24
rs1206537 22 19209167 CLTCL1 ENSG00000070371.11 9.4e-7 0.03 70072 gtex_brain_ba24
rs807460 22 19212655 CLTCL1 ENSG00000070371.11 9.417E-7 0.03 66584 gtex_brain_ba24
rs807461 22 19212708 CLTCL1 ENSG00000070371.11 9.417E-7 0.03 66531 gtex_brain_ba24
. 22 19214071 CLTCL1 ENSG00000070371.11 9.442e-7 0.03 65168 gtex_brain_ba24
rs1206545 22 19215560 CLTCL1 ENSG00000070371.11 9.662E-7 0.03 63679 gtex_brain_ba24
rs1206546 22 19215700 CLTCL1 ENSG00000070371.11 9.442e-7 0.03 63539 gtex_brain_ba24
rs1206547 22 19215787 CLTCL1 ENSG00000070371.11 9.442e-7 0.03 63452 gtex_brain_ba24
rs1206548 22 19215836 CLTCL1 ENSG00000070371.11 9.662E-7 0.03 63403 gtex_brain_ba24
rs1206550 22 19217041 CLTCL1 ENSG00000070371.11 9.671E-7 0.03 62198 gtex_brain_ba24
rs1206551 22 19217197 CLTCL1 ENSG00000070371.11 9.671E-7 0.03 62042 gtex_brain_ba24
rs1206552 22 19217764 CLTCL1 ENSG00000070371.11 9.671E-7 0.03 61475 gtex_brain_ba24
rs1206554 22 19219980 CLTCL1 ENSG00000070371.11 9.671E-7 0.03 59259 gtex_brain_ba24
. 22 19222453 CLTCL1 ENSG00000070371.11 9.671E-7 0.03 56786 gtex_brain_ba24
rs809416 22 19224115 CLTCL1 ENSG00000070371.11 9.671E-7 0.03 55124 gtex_brain_ba24
rs807468 22 19226767 CLTCL1 ENSG00000070371.11 9.391E-7 0.03 52472 gtex_brain_ba24
rs807469 22 19227706 CLTCL1 ENSG00000070371.11 9.637E-7 0.03 51533 gtex_brain_ba24
rs1206555 22 19228943 CLTCL1 ENSG00000070371.11 9.637E-7 0.03 50296 gtex_brain_ba24
. 22 19229517 CLTCL1 ENSG00000070371.11 9.451E-7 0.03 49722 gtex_brain_ba24
rs807465 22 19232466 CLTCL1 ENSG00000070371.11 9.538e-7 0.03 46773 gtex_brain_ba24
rs1206541 22 19235804 CLTCL1 ENSG00000070371.11 9.628 e - 0.03 43435 gtex_brain_ba24
rs2800994 22 19238555 CLTCL1 ENSG00000070371.11 9.521E-7 0.03 40684 gtex_brain_ba24
RS2096379 22 19239984 CLTCL1 ENSG00000070371.11 9.611E-7 0.03 39255 gtex_brain_ba24
rs812088 22 19240861 CLTCL1 ENSG00000070371.11 9.611E-7 0.03 38378 gtex_brain_ba24
rs807430 22 19241841 CLTCL1 ENSG00000070371.11 9.611E-7 0.03 37398 gtex_brain_ba24
rs2800991 22 19244130 CLTCL1 ENSG00000070371.11 9.611E-7 0.03 35109 gtex_brain_ba24
rs2518865 22 19244161 CLTCL1 ENSG00000070371.11 9.611E-7 0.03 35078 gtex_brain_ba24
rs370175843 22 19246937 CLTCL1 ENSG00000070371.11 9.493E-7 0.03 32302 gtex_brain_ba24
rs807433 22 19247153 CLTCL1 ENSG00000070371.11 9.512E-7 0.03 32086 gtex_brain_ba24
rs1091010 22 19247995 CLTCL1 ENSG00000070371.11 9.483E-7 0.03 31244 gtex_brain_ba24
rs1091012 22 19248551 CLTCL1 ENSG00000070371.11 9.466e-7 0.03 30688 gtex_brain_ba24
rs2518835 22 19251040 CLTCL1 ENSG00000070371.11 1.195E-6 0.03 28199 gtex_brain_ba24
rs2518836 22 19251792 CLTCL1 ENSG00000070371.11 9.34E-7 0.03 27447 gtex_brain_ba24
rs2518837 22 19222270 CLTCL1 ENSG00000070371.11 9.237E-7 0.03 26969 gtex_brain_ba24
rs2793058 22 19252387 CLTCL1 ENSG00000070371.11 9.303E-7 0.03 26852 gtex_brain_ba24
rs2793057 22 19252419 CLTCL1 ENSG00000070371.11 9.303E-7 0.03 26820 gtex_brain_ba24
rs2518852 22 19252527 CLTCL1 ENSG00000070371.11 9.303E-7 0.03 26712 gtex_brain_ba24
rs2518854 22 19252822 CLTCL1 ENSG00000070371.11 9.287E-7 0.03 26417 gtex_brain_ba24
rs1936956 22 19253684 CLTCL1 ENSG00000070371.11 9.261E-7 0.03 25555 gtex_brain_ba24
rs1936955 22 19253899 CLTCL1 ENSG00000070371.11 9.245E-7 0.03 25340 gtex_brain_ba24
RS73160229 22 19259781 CLTCL1 ENSG00000070371.11 8.799E-7 0.03 19458 gtex_brain_ba24
RS73160230 22 19259784 CLTCL1 ENSG00000070371.11 8.799E-7 0.03 19455 gtex_brain_ba24
RS11703501 22 19260578 CLTCL1 ENSG00000070371.11 1.735E-6 0.03 18661 gtex_brain_ba24
rs45579934 22 19263083 CLTCL1 ENSG00000070371.11 8.499E-7 0.03 16156 gtex_brain_ba24
RS73160231 22 19263906 CLTCL1 ENSG00000070371.11 8.32e-7 0.03 15333 gtex_brain_ba24
RS73160233 22 19267923 CLTCL1 ENSG00000070371.11 8.171E-7 0.03 11316 gtex_brain_ba24
RS11912880 22 19273227 CLTCL1 ENSG00000070371.11 7.595E-7 0.03 6012 gtex_brain_ba24
rs11912726 22 19273370 CLTCL1 ENSG00000070371.11 7.583E-7 0.03 5869 gtex_brain_ba24
RS73160236 22 19275606 CLTCL1 ENSG00000070371.11 7.385E-7 0.03 3633 gtex_brain_ba24
rs8143071 22 19277809 CLTCL1 ENSG00000070371.11 9.306e-7 0.03 1430 gtex_brain_ba24
rs3747061 22 19279221 CLTCL1 ENSG00000070371.11 9.011E-7 0.03 18 gtex_brain_ba24
rs112641399 22 19279558 CLTCL1 ENSG00000070371.11 8.971E-7 0.03 -319 gtex_brain_ba24
rs45618939 22 19280168 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 -929 gtex_brain_ba24
rs5993574 22 19281255 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 -2016年 gtex_brain_ba24
RS7286948 22 19281411 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 -2172 gtex_brain_ba24
rs5993576 22 19282854 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 -3615 gtex_brain_ba24
RS5992387 22 19283478 CLTCL1 ENSG00000070371.11 8.883E-7 0.03 -4239 gtex_brain_ba24
rs67966911 22 19283871 CLTCL1 ENSG00000070371.11 8.258E-7 0.03 -4632 gtex_brain_ba24
rs5993577 22 19284517 CLTCL1 ENSG00000070371.11 6.283E-7 0.03 -5278 gtex_brain_ba24
rs5993578 22 19284808 CLTCL1 ENSG00000070371.11 5.823 e - 0.03 -5569 gtex_brain_ba24
rs5993579 22 19284832 CLTCL1 ENSG00000070371.11 5.795E-7 0.03 -5593 gtex_brain_ba24

Section II. Transcriptome annotation

基因ral gene expression (GTEx)

Not available

基因expression during devlopment (BrainCloud)

脚注：
总共绘制了269个时间点，n = 38个胎儿样品（x = 1：38）。每个三角形代表一个时间点。

基因expression of temporal and spatial changes (BrainSpan)

脚注：
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

大脑区域没有共表达基因


Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
去：0004871 signal transducer activity 塔斯 8844170
GO:0005515 protein binding IEA -
GO:0005198 structural molecule activity IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0009653 anatomical structure morphogenesis 塔斯 8733128
GO:0006898 receptor-mediated endocytosis 塔斯 8844170
GO:0006886 intracellular protein transport IEA -
GO:0016192 vesicle-mediated transport IEA -
细胞分量 去的术语 Evidence Neuro keywords PubMed ID
GO:0016020 膜 IEA -
GO:0030132 clathrin coat of coated pit IEA -
GO:0030130 clathrin coat of trans-Golgi network vesicle IEA -
GO:0031410 cytoplasmic vesicle IEA -
GO:0030659 cytoplasmic vesicle membrane IEA -

V.途径注释

Pathway name Pathway size ＃szgr 2.0基因 Info
KEGG LYSOSOME 121 83 该途径中的所有SZGR 2.0基因
KEGG ENDOCYTOSIS 183 132 该途径中的所有SZGR 2.0基因
Kegg Huntingtons病 185 109 该途径中的所有SZGR 2.0基因
REACTOME GAP JUNCTION DEGRADATION 10 8 该途径中的所有SZGR 2.0基因
REACTOME MEMBRANE TRAFFICKING 129 74 该途径中的所有SZGR 2.0基因
REACTOME GAP JUNCTION TRAFFICKING 27 19 该途径中的所有SZGR 2.0基因
MULLIGHAN MLL SIGNATURE 1 UP 380 236 该途径中的所有SZGR 2.0基因
Mullighan MLL签名2 UP 418 263 该途径中的所有SZGR 2.0基因
PEREZ TP53 TARGETS 1174 695 该途径中的所有SZGR 2.0基因
MYLLYKANGAS AMPLIFICATION HOT SPOT 22 13 9 该途径中的所有SZGR 2.0基因
SU TESTIS 76 53 该途径中的所有SZGR 2.0基因
BANDRES RESPONSE TO CARMUSTIN MGMT 48HR UP 18 13 该途径中的所有SZGR 2.0基因
GRESHOCK CANCER COPY NUMBER UP 323 240 该途径中的所有SZGR 2.0基因