AutismKB 2.0

Annotation Detail for KIAA0427


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Basic Information Top
Gene Symbol:KIAA0427 ( CTIF,Gm672 )
Gene Full Name: KIAA0427
Band: 18q21.1
Quick LinksEntrez ID:9811; OMIM: 613178; Uniprot ID:CTIF_HUMAN; ENSEMBL ID: ENSG00000134030; HGNC ID:
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 body4 / 7076156
blastocyst4 / 6231964
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult45 / 193912123
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma6 / 10688356
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor9 / 10312787
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal87 / 336030725
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone1 / 7165513
bone marrow0 / 488010 
brain38 / 110098934
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye14 / 21105466
heart0 / 896260 
intestine4 / 23447217
kidney4 / 21177718
larynx1 / 2414541
liver2 / 2077439
lung17 / 33697450
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve3 / 15768190
ovary3 / 10205129
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204303_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.9
Adipocyte21
AdrenalCortex12.1
Adrenalgland9.95
Amygdala60.1
Appendix11.5
AtrioventricularNode8.7
BDCA4+_DentriticCells12.1
Bonemarrow12.75
BronchialEpithelialCells10.75
CD105+_Endothelial11.15
CD14+_Monocytes11.85
CD19+_BCells(neg._sel.)11.35
CD33+_Myeloid13.9
CD34+12.45
CD4+_Tcells11.45
CD56+_NKCells11.05
CD71+_EarlyErythroid10.5
CD8+_Tcells10.8
CardiacMyocytes15.15
Caudatenucleus19.2
Cerebellum14.1
CerebellumPeduncles25.75
CiliaryGanglion8.1
CingulateCortex50.65
Colorectaladenocarcinoma11.35
DorsalRootGanglion8.85
FetalThyroid10.9
Fetalbrain187.25
Fetalliver9.9
Fetallung15.05
GlobusPallidus12
Heart14.6
Hypothalamus59.8
Kidney9.3
Leukemia_chronicMyelogenousK-5629.65
Leukemia_promyelocytic-HL-609.55
Leukemialymphoblastic(MOLT-4)9.2
Liver15.2
Lung39.15
Lymphnode9.15
Lymphoma_burkitts(Daudi)14.6
Lymphoma_burkitts(Raji)15.3
MedullaOblongata24.45
OccipitalLobe15.15
OlfactoryBulb11.95
Ovary7.55
Pancreas8.75
PancreaticIslet11.8
ParietalLobe12.45
Pituitary13.5
Placenta11.4
Pons11.8
PrefrontalCortex189
Prostate15.05
Salivarygland9.05
SkeletalMuscle13.15
Skin8.8
SmoothMuscle40.45
Spinalcord19.2
SubthalamicNucleus18.95
SuperiorCervicalGanglion12.95
TemporalLobe21.4
Testis9.75
TestisGermCell9.25
TestisIntersitial9.4
TestisLeydigCell10.4
TestisSeminiferousTubule9.85
Thalamus77.85
Thymus8.5
Thyroid14.75
Tongue11.25
Tonsil11.1
Trachea9.6
TrigeminalGanglion11.4
Uterus12.3
UterusCorpus10.7
WholeBlood12.1
Wholebrain103.95
colon11.5
pineal_day93.38
pineal_night86.34
retina26
small_intestine10.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P207967
  • 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
Amygdala8.76 ± 0.28
Basal Forebrain9 ± 0.27
Basal Part of Pons9.27 ± 0.26
Cerebellar Cortex8.82 ± 0.36
Cerebellar Nuclei9.08 ± 0.35
Claustrum8.33 ± 0.35
Epithalamus8.26 ± 0.52
Frontal Lobe8.98 ± 0.38
Globus Pallidus8.77 ± 0.33
Hypothalamus8.76 ± 0.45
Insula8.93 ± 0.36
Limbic Lobe8.91 ± 0.33
Mesencephalon8.93 ± 0.34
Myelencephalon8.94 ± 0.42
Occipital Lobe9.09 ± 0.31
Parietal Lobe9.13 ± 0.36
Pontine Tegmentum8.92 ± 0.4
Striatum8.9 ± 0.3
Subthalamus9.34 ± 0.44
Temporal Lobe9.03 ± 0.31
Thalamus9.2 ± 0.42
White Matter7.79 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gm672CBCerebellum14.86
17.29
Gm672CTXCerebral cortex39.16
29.12
Gm672HIPHippocampal region37.24
54.38
Gm672HPFHippocampal formation35.7
41.79
Gm672HYHypothalamus37.99
32.03
Gm672LSXLateral septal complex19.22
14.03
Gm672MBMidbrain53.51
51.96
Gm672MYMedulla61.77
81.33
Gm672OLFOlfactory bulb38.32
30.09
Gm672PPons60.39
77.92
Gm672PALPallidum17.32
17.18
Gm672RHPRetrohippocampal region31.9
25.34
Gm672sAMYStriatum-like amygdalar nuclei29.45
21.78
Gm672STRStriatum7.76
6.64
Gm672STRdStriatum dorsal region3.67
4
Gm672STRvStriatum ventral region7.18
6.01
Gm672THThalamus98.51
92.64
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CTIF_HUMAN_1 17 1 17 MENSSAASASSEAGSSR PRIDE
CTIF_HUMAN_393 23 393 415 LTTFMEEAQNSTNSEEMLGEIVR PRIDE
CTIF_HUMAN_534 18 534 551 LLEEQLPEMMTELLASAR PRIDE
PAp00496647 17 282 298 LEDTAGDTGHSSLEAPR 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