AutismKB 2.0

Annotation Detail for KIAA0317


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Basic Information Top
Gene Symbol:KIAA0317 ( - )
Gene Full Name: KIAA0317
Band: 14q24.3
Quick LinksEntrez ID:9870; OMIM: NA; Uniprot ID:K0317_HUMAN; ENSEMBL ID: ENSG00000119682; 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 body0 / 707610 
blastocyst0 / 623190 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal10 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
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: 202128_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.3
Adipocyte3.6
AdrenalCortex3.75
Adrenalgland3.05
Amygdala4
Appendix3.65
AtrioventricularNode2.7
BDCA4+_DentriticCells20.75
Bonemarrow3.65
BronchialEpithelialCells4.15
CD105+_Endothelial37.4
CD14+_Monocytes23.1
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid19.35
CD34+16.15
CD4+_Tcells22.3
CD56+_NKCells41.75
CD71+_EarlyErythroid21.85
CD8+_Tcells38
CardiacMyocytes4.75
Caudatenucleus3.35
Cerebellum2.95
CerebellumPeduncles4.15
CiliaryGanglion2.55
CingulateCortex3.75
Colorectaladenocarcinoma4.7
DorsalRootGanglion2.75
FetalThyroid3.7
Fetalbrain8.3
Fetalliver3.2
Fetallung3.1
GlobusPallidus2.7
Heart4.55
Hypothalamus8.35
Kidney3
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)3.7
Liver4.75
Lung4
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.75
Lymphoma_burkitts(Raji)5.1
MedullaOblongata3.4
OccipitalLobe3.65
OlfactoryBulb2.95
Ovary2.4
Pancreas2.95
PancreaticIslet3.95
ParietalLobe3.85
Pituitary4.3
Placenta4.25
Pons3.45
PrefrontalCortex7.8
Prostate4.3
Salivarygland3
SkeletalMuscle4.1
Skin2.75
SmoothMuscle6.1
Spinalcord3.9
SubthalamicNucleus3.35
SuperiorCervicalGanglion4.1
TemporalLobe3.3
Testis4.4
TestisGermCell6.3
TestisIntersitial3.1
TestisLeydigCell3.65
TestisSeminiferousTubule4.75
Thalamus4.45
Thymus3.8
Thyroid4.75
Tongue3.6
Tonsil3.6
Trachea3.1
TrigeminalGanglion3.65
Uterus3.1
UterusCorpus3.3
WholeBlood44.75
Wholebrain8.5
colon3.7
pineal_day17.28
pineal_night19.8
retina15.45
small_intestine3.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8312_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
Amygdala4.57 ± 0.46
Basal Forebrain4.45 ± 0.23
Basal Part of Pons4.81 ± 0.28
Cerebellar Cortex5.14 ± 0.19
Cerebellar Nuclei4.46 ± 0.45
Claustrum4.61 ± 0.78
Epithalamus4.4 ± 0.23
Frontal Lobe4.7 ± 0.38
Globus Pallidus4.24 ± 0.3
Hypothalamus4.33 ± 0.58
Insula4.67 ± 0.28
Limbic Lobe4.68 ± 0.41
Mesencephalon4.59 ± 0.42
Myelencephalon4.68 ± 0.42
Occipital Lobe4.61 ± 0.46
Parietal Lobe4.65 ± 0.42
Pontine Tegmentum4.51 ± 0.55
Striatum4.49 ± 0.41
Subthalamus4.06 ± 0.18
Temporal Lobe4.67 ± 0.44
Thalamus4.7 ± 0.49
White Matter5.46 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1110018G07RikCBCerebellum31.82
68.28
1110018G07RikCTXCerebral cortex100
100
1110018G07RikHIPHippocampal region94.31
100
1110018G07RikHPFHippocampal formation100
100
1110018G07RikHYHypothalamus37.97
30.74
1110018G07RikLSXLateral septal complex76.66
85.35
1110018G07RikMBMidbrain43.81
44.27
1110018G07RikMYMedulla58.82
76.61
1110018G07RikOLFOlfactory bulb100
100
1110018G07RikPPons54.57
67.13
1110018G07RikPALPallidum59
58.51
1110018G07RikRHPRetrohippocampal region100
100
1110018G07RiksAMYStriatum-like amygdalar nuclei100
100
1110018G07RikSTRStriatum100
100
1110018G07RikSTRdStriatum dorsal region100
100
1110018G07RikSTRvStriatum ventral region100
100
1110018G07RikTHThalamus69.81
70.28
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00501534 22 325 346 RPSTAVDEEDEDSPSECHTPEK 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


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