AutismKB 2.0

Annotation Detail for KIAA0284


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Basic Information Top
Gene Symbol:KIAA0284 ( FAM68C,MGC131679 )
Gene Full Name: KIAA0284
Band: 14q32.33
Quick LinksEntrez ID:283638; OMIM: NA; Uniprot ID:K0284_HUMAN; ENSEMBL ID: ENSG00000099814; 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 body3 / 7076142
blastocyst4 / 6231964
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult59 / 193912130
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor20 / 119369167
germ cell tumor3 / 26384511
glioma4 / 10688337
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal91 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor6 / 12494948
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites8 / 40015199
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain43 / 110098939
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye10 / 21105447
heart0 / 896260 
intestine12 / 23447251
kidney6 / 21177728
larynx0 / 241450 
liver1 / 2077434
lung13 / 33697438
lymph0 / 442700 
lymph node0 / 916100 
mammary gland7 / 15327145
mouth5 / 6705274
muscle3 / 10771527
nerve4 / 15768253
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate7 / 18934536
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach10 / 96619103
testis3 / 3304429
thymus3 / 8113136
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213242_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts51
Adipocyte90.25
AdrenalCortex111.9
Adrenalgland84.8
Amygdala454.35
Appendix57.75
AtrioventricularNode52.35
BDCA4+_DentriticCells40.4
Bonemarrow69.2
BronchialEpithelialCells97
CD105+_Endothelial91.25
CD14+_Monocytes50.6
CD19+_BCells(neg._sel.)64.3
CD33+_Myeloid52.1
CD34+72.5
CD4+_Tcells61.05
CD56+_NKCells65.25
CD71+_EarlyErythroid87.55
CD8+_Tcells45.6
CardiacMyocytes97
Caudatenucleus182.55
Cerebellum314.1
CerebellumPeduncles213.3
CiliaryGanglion57.15
CingulateCortex182.35
Colorectaladenocarcinoma285.2
DorsalRootGanglion67.9
FetalThyroid100.7
Fetalbrain211.1
Fetalliver77
Fetallung72.8
GlobusPallidus148.1
Heart165.6
Hypothalamus189.4
Kidney62.45
Leukemia_chronicMyelogenousK-56286.75
Leukemia_promyelocytic-HL-6049.75
Leukemialymphoblastic(MOLT-4)42.4
Liver249.4
Lung168.05
Lymphnode48.2
Lymphoma_burkitts(Daudi)84.05
Lymphoma_burkitts(Raji)150.05
MedullaOblongata177
OccipitalLobe318.05
OlfactoryBulb58.85
Ovary55.95
Pancreas88.2
PancreaticIslet147.55
ParietalLobe163.75
Pituitary139
Placenta84.95
Pons160.4
PrefrontalCortex471.9
Prostate333.65
Salivarygland74.35
SkeletalMuscle77.75
Skin72.3
SmoothMuscle108.7
Spinalcord103.25
SubthalamicNucleus196.7
SuperiorCervicalGanglion66.75
TemporalLobe160.4
Testis158.2
TestisGermCell90.95
TestisIntersitial89.95
TestisLeydigCell97.25
TestisSeminiferousTubule101.65
Thalamus160.55
Thymus68.2
Thyroid245.95
Tongue104.9
Tonsil82.95
Trachea81.95
TrigeminalGanglion106.5
Uterus90.35
UterusCorpus45.55
WholeBlood41.6
Wholebrain302.55
colon140.45
pineal_day341.08
pineal_night305.18
retina235.375
small_intestine138.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_566_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
Amygdala4.41 ± 0.59
Basal Forebrain4 ± 0.34
Basal Part of Pons3.97 ± 0.6
Cerebellar Cortex3.88 ± 0.63
Cerebellar Nuclei3.02 ± 0.53
Claustrum4.91 ± 0.77
Epithalamus3.33 ± 0.51
Frontal Lobe3.89 ± 0.63
Globus Pallidus3.12 ± 0.66
Hypothalamus3.19 ± 0.32
Insula4.18 ± 0.5
Limbic Lobe4.43 ± 0.66
Mesencephalon3.92 ± 0.71
Myelencephalon4.04 ± 0.66
Occipital Lobe3.99 ± 0.55
Parietal Lobe4.13 ± 0.75
Pontine Tegmentum3.8 ± 0.5
Striatum3.88 ± 0.61
Subthalamus3.79 ± 0.26
Temporal Lobe4.12 ± 0.56
Thalamus4.02 ± 0.6
White Matter2.46 ± 1.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AW555464CBCerebellum42.74
50.86
AW555464CTXCerebral cortex100
100
AW555464HIPHippocampal region74.15
100
AW555464HPFHippocampal formation100
100
AW555464HYHypothalamus100
100
AW555464LSXLateral septal complex71.56
54.35
AW555464MBMidbrain83.43
86.27
AW555464MYMedulla68.58
100
AW555464OLFOlfactory bulb100
100
AW555464PPons76.87
100
AW555464PALPallidum85.56
100
AW555464RHPRetrohippocampal region100
100
AW555464sAMYStriatum-like amygdalar nuclei100
100
AW555464STRStriatum49.23
44.54
AW555464STRdStriatum dorsal region31.91
29.47
AW555464STRvStriatum ventral region48.8
42.79
AW555464THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011335 21 130 150 RSEALPEHTPYCEASNPRPEK 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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