AutismKB 2.0

Annotation Detail for CHTF18


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Basic Information Top
Gene Symbol:CHTF18 ( C16orf41,C321D2.2,C321D2.3,C321D2.4,CHL12,Ctf18,RUVBL )
Gene Full Name: CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)
Band: 16p13.3
Quick LinksEntrez ID:63922; OMIM: 613201; Uniprot ID:CTF18_HUMAN; ENSEMBL ID: ENSG00000127586; HGNC ID: 18435
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body6 / 7076184
blastocyst5 / 6231980
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor16 / 26384560
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia7 / 9584273
liver tumor13 / 96359134
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal51 / 336030715
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood5 / 12347840
bone5 / 7165569
bone marrow2 / 4880140
brain22 / 110098919
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver13 / 20774362
lung5 / 33697414
lymph1 / 4427022
lymph node0 / 916100 
mammary gland2 / 15327113
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary7 / 10205168
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach2 / 9661920
testis7 / 33044221
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6845_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.13 ± 0.68
Basal Forebrain4.44 ± 0.66
Basal Part of Pons3.98 ± 0.56
Cerebellar Cortex3.69 ± 0.45
Cerebellar Nuclei4.91 ± 0.77
Claustrum4.59 ± 0.97
Epithalamus2.92 ± 0.6
Frontal Lobe4.02 ± 0.76
Globus Pallidus4.78 ± 0.73
Hypothalamus3.44 ± 0.71
Insula4.03 ± 0.72
Limbic Lobe4.04 ± 0.77
Mesencephalon4.17 ± 0.66
Myelencephalon4.17 ± 0.82
Occipital Lobe3.95 ± 0.93
Parietal Lobe4.03 ± 0.77
Pontine Tegmentum4.08 ± 0.73
Striatum4.8 ± 0.78
Subthalamus4.56 ± 0.21
Temporal Lobe3.92 ± 0.69
Thalamus4.32 ± 0.56
White Matter4.01 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Chtf18CBCerebellum1.13
3.3
Chtf18CTXCerebral cortex1.12
1.41
Chtf18HIPHippocampal region0.61
0.72
Chtf18HPFHippocampal formation0.56
0.83
Chtf18HYHypothalamus0.86
0.63
Chtf18LSXLateral septal complex1.06
0.72
Chtf18MBMidbrain0.57
1.14
Chtf18MYMedulla0.4
0.75
Chtf18OLFOlfactory bulb1.61
2.7
Chtf18PPons0.56
1.59
Chtf18PALPallidum0.13
0.12
Chtf18RHPRetrohippocampal region0.22
0.52
Chtf18sAMYStriatum-like amygdalar nuclei0.08
0.1
Chtf18STRStriatum0.13
0.15
Chtf18STRdStriatum dorsal region0.03
0.11
Chtf18STRvStriatum ventral region0.21
0.15
Chtf18THThalamus0.71
0.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009175 12 551 562 ACINTLQFLYSR Peptide Atlas

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