AutismKB 2.0

Annotation Detail for KIAA0196


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Basic Information Top
Gene Symbol:KIAA0196 ( MGC111053,SPG8 )
Gene Full Name: KIAA0196
Band: 8q24.13
Quick LinksEntrez ID:9897; OMIM: 610657; Uniprot ID:STRUM_HUMAN; ENSEMBL ID: ENSG00000164961; 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
blastocyst6 / 6231996
fetus51 / 56401290
neonate1 / 3109732
infant3 / 23620127
juvenile3 / 5555653
adult126 / 193912164
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) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma12 / 82823144
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor27 / 263845102
glioma3 / 10688328
head and neck tumor13 / 13630295
kidney tumor2 / 6895929
leukemia9 / 9584293
liver tumor8 / 9635983
lung tumor5 / 10312748
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal230 / 336030768
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor11 / 12494988
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder2 / 2975767
blood4 / 12347832
bone8 / 71655111
bone marrow3 / 4880161
brain72 / 110098965
cervix3 / 4817162
connective tissue7 / 14925546
ear2 / 16212123
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye6 / 21105428
heart5 / 8962655
intestine18 / 23447276
kidney19 / 21177789
larynx0 / 241450 
liver11 / 20774352
lung11 / 33697432
lymph2 / 4427045
lymph node15 / 91610163
mammary gland18 / 153271117
mouth8 / 67052119
muscle2 / 10771518
nerve1 / 1576863
ovary2 / 10205119
pancreas6 / 21481227
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta23 / 28082581
prostate10 / 18934552
salivary gland0 / 201550 
skin13 / 21057461
spleen3 / 5395255
stomach2 / 9661920
testis29 / 33044287
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord1 / 1368073
uterus23 / 23287898
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201985_at
Cell line Expression level Expression bar
721_B_lymphoblasts25.4
Adipocyte8.65
AdrenalCortex7.65
Adrenalgland6.1
Amygdala8.1
Appendix7.65
AtrioventricularNode5.75
BDCA4+_DentriticCells18.15
Bonemarrow6.75
BronchialEpithelialCells7.8
CD105+_Endothelial26.85
CD14+_Monocytes58.45
CD19+_BCells(neg._sel.)22.65
CD33+_Myeloid29.9
CD34+36.15
CD4+_Tcells14.6
CD56+_NKCells28.6
CD71+_EarlyErythroid15.85
CD8+_Tcells12.8
CardiacMyocytes10.1
Caudatenucleus6.15
Cerebellum5.25
CerebellumPeduncles7.25
CiliaryGanglion5
CingulateCortex7.2
Colorectaladenocarcinoma6.8
DorsalRootGanglion5.35
FetalThyroid8.15
Fetalbrain6.8
Fetalliver5.95
Fetallung5.15
GlobusPallidus5.75
Heart8.4
Hypothalamus9.05
Kidney5.5
Leukemia_chronicMyelogenousK-5627.15
Leukemia_promyelocytic-HL-606.35
Leukemialymphoblastic(MOLT-4)6.55
Liver8.5
Lung6.95
Lymphnode6.2
Lymphoma_burkitts(Daudi)9.4
Lymphoma_burkitts(Raji)9.5
MedullaOblongata6.9
OccipitalLobe6.95
OlfactoryBulb5.5
Ovary4.65
Pancreas5.7
PancreaticIslet7.5
ParietalLobe7.2
Pituitary8.35
Placenta7.3
Pons7.35
PrefrontalCortex9.7
Prostate8.15
Salivarygland8.75
SkeletalMuscle8.25
Skin6.55
SmoothMuscle12.5
Spinalcord11
SubthalamicNucleus6.6
SuperiorCervicalGanglion9.75
TemporalLobe6.45
Testis6.1
TestisGermCell5.75
TestisIntersitial4.95
TestisLeydigCell6.95
TestisSeminiferousTubule5.85
Thalamus8.6
Thymus5.7
Thyroid10.4
Tongue6.9
Tonsil7
Trachea5.45
TrigeminalGanglion8.35
Uterus5.65
UterusCorpus7
WholeBlood11.5
Wholebrain5.4
colon7.05
pineal_day16.04
pineal_night14.36
retina9.05
small_intestine6.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5457_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
Amygdala8.53 ± 0.31
Basal Forebrain8.74 ± 0.48
Basal Part of Pons8.57 ± 0.4
Cerebellar Cortex8.3 ± 0.15
Cerebellar Nuclei8.62 ± 0.27
Claustrum9.09 ± 0.54
Epithalamus8.09 ± 0.27
Frontal Lobe8.59 ± 0.3
Globus Pallidus9.51 ± 0.44
Hypothalamus8.45 ± 0.27
Insula8.49 ± 0.39
Limbic Lobe8.64 ± 0.51
Mesencephalon8.64 ± 0.45
Myelencephalon8.62 ± 0.39
Occipital Lobe8.43 ± 0.45
Parietal Lobe8.55 ± 0.4
Pontine Tegmentum8.54 ± 0.37
Striatum8.69 ± 0.44
Subthalamus8.44 ± 0.37
Temporal Lobe8.55 ± 0.43
Thalamus8.53 ± 0.36
White Matter9.5 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
E430025E21RikCBCerebellum3.9
4.42
E430025E21RikCTXCerebral cortex12.49
9.36
E430025E21RikHIPHippocampal region10.76
10.47
E430025E21RikHPFHippocampal formation9.39
8.32
E430025E21RikHYHypothalamus0.32
0.32
E430025E21RikLSXLateral septal complex0
0
E430025E21RikMBMidbrain2.11
2.47
E430025E21RikMYMedulla4.28
5.73
E430025E21RikOLFOlfactory bulb7.99
7.02
E430025E21RikPPons2.41
3.94
E430025E21RikPALPallidum1.12
1.29
E430025E21RikRHPRetrohippocampal region7.63
5.75
E430025E21RiksAMYStriatum-like amygdalar nuclei0.86
0.95
E430025E21RikSTRStriatum1.01
1.21
E430025E21RikSTRdStriatum dorsal region1.25
1.63
E430025E21RikSTRvStriatum ventral region0.68
0.58
E430025E21RikTHThalamus1.89
1.71
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040018 24 1005 1028 EDNTLLYEITAYLEAAGIHNPLNK Peptide Atlas
STRUM_HUMAN_215 14 215 228 VPINESFISMVIGR PRIDE
STRUM_HUMAN_394 11 394 404 QIKDQILTDSR PRIDE
STRUM_HUMAN_741 13 741 753 LKELGATMDGFHR PRIDE

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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