AutismKB 2.0

Annotation Detail for KIAA1244


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Basic Information Top
Gene Symbol:KIAA1244 ( A7322,ARFGEF3,BIG3,C6orf92,FLJ32064,dJ171N11.1 )
Gene Full Name: KIAA1244
Band: 6q23.3
Quick LinksEntrez ID:57221; OMIM: NA; Uniprot ID:BIG3_HUMAN; ENSEMBL ID: ENSG00000112379; 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 body1 / 7076114
blastocyst3 / 6231948
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult117 / 193912160
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) tumor8 / 9417884
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal176 / 336030752
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer27 / 102680262
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain90 / 110098981
cervix0 / 481710 
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye10 / 21105447
heart0 / 896260 
intestine13 / 23447255
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung28 / 33697483
lymph0 / 442700 
lymph node0 / 916100 
mammary gland11 / 15327171
mouth0 / 670520 
muscle5 / 10771546
nerve1 / 1576863
ovary0 / 1020510 
pancreas40 / 214812186
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta2 / 2808257
prostate32 / 189345169
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P498899
  • 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
Amygdala6.79 ± 0.18
Basal Forebrain6.49 ± 0.37
Basal Part of Pons6.17 ± 0.37
Cerebellar Cortex6.93 ± 0.28
Cerebellar Nuclei6.37 ± 0.26
Claustrum6.78 ± 0.45
Epithalamus5.58 ± 0.89
Frontal Lobe6.37 ± 0.39
Globus Pallidus6.56 ± 0.34
Hypothalamus6.52 ± 0.4
Insula6.63 ± 0.48
Limbic Lobe6.73 ± 0.47
Mesencephalon6.54 ± 0.45
Myelencephalon6.46 ± 0.47
Occipital Lobe6.34 ± 0.42
Parietal Lobe6.52 ± 0.5
Pontine Tegmentum6.55 ± 0.43
Striatum6.15 ± 0.38
Subthalamus6.33 ± 0.43
Temporal Lobe6.66 ± 0.39
Thalamus6.44 ± 0.31
White Matter7.57 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D10Bwg1379eCBCerebellum35.38
41.03
D10Bwg1379eCTXCerebral cortex100
98.57
D10Bwg1379eHIPHippocampal region80.83
100
D10Bwg1379eHPFHippocampal formation87.25
92.48
D10Bwg1379eHYHypothalamus67.34
43.6
D10Bwg1379eLSXLateral septal complex55.88
31.62
D10Bwg1379eMBMidbrain61.87
46.79
D10Bwg1379eMYMedulla65.59
60.44
D10Bwg1379eOLFOlfactory bulb80.24
69.65
D10Bwg1379ePPons55.73
46.9
D10Bwg1379ePALPallidum57.33
44.11
D10Bwg1379eRHPRetrohippocampal region88.98
73.8
D10Bwg1379esAMYStriatum-like amygdalar nuclei58.29
35.55
D10Bwg1379eSTRStriatum48.04
27.33
D10Bwg1379eSTRdStriatum dorsal region42.01
23.53
D10Bwg1379eSTRvStriatum ventral region60.33
33.64
D10Bwg1379eTHThalamus77.25
54.88
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00163533 15 376 390 LCDLAGPSSTESESR 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