AutismKB 2.0

Annotation Detail for KIAA1217


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Basic Information Top
Gene Symbol:KIAA1217 ( DKFZp761L0424,MGC31990,SKT )
Gene Full Name: KIAA1217
Band: 10p12.2-p12.1
Quick LinksEntrez ID:56243; OMIM: NA; Uniprot ID:SKT_HUMAN; ENSEMBL ID: ENSG00000120549; HGNC ID: 25428
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 body2 / 7076128
blastocyst3 / 6231948
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult159 / 193912181
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor16 / 114246140
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor54 / 136302396
kidney tumor8 / 68959116
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal134 / 336030739
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer9 / 10268087
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder3 / 29757100
blood0 / 1234780 
bone6 / 7165583
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue3 / 14925520
ear2 / 16212123
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye13 / 21105461
heart1 / 8962611
intestine20 / 23447285
kidney17 / 21177780
larynx1 / 2414541
liver12 / 20774357
lung17 / 33697450
lymph0 / 442700 
lymph node0 / 916100 
mammary gland21 / 153271137
mouth27 / 67052402
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta13 / 28082546
prostate12 / 18934563
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach8 / 9661982
testis11 / 33044233
thymus4 / 8113149
thyroid30 / 47473631
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus9 / 23287838
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_23_P310022
  • 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
Amygdala6.26 ± 0.21
Basal Forebrain6.69 ± 0.4
Basal Part of Pons8.03 ± 0.29
Cerebellar Cortex6.25 ± 0.35
Cerebellar Nuclei7.71 ± 0.37
Claustrum6.61 ± 0.61
Epithalamus6.5 ± 0.57
Frontal Lobe7.17 ± 0.46
Globus Pallidus6.13 ± 1.1
Hypothalamus6.56 ± 0.56
Insula7.39 ± 0.49
Limbic Lobe7.23 ± 0.9
Mesencephalon6.68 ± 0.81
Myelencephalon6.98 ± 0.76
Occipital Lobe7.58 ± 0.56
Parietal Lobe7.13 ± 0.71
Pontine Tegmentum7.04 ± 0.57
Striatum6.81 ± 1.17
Subthalamus7.43 ± 0.43
Temporal Lobe7.17 ± 0.45
Thalamus7.3 ± 0.63
White Matter4.76 ± 1.36
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040321 25 1546 1570 FSHVDSPNSECKGEDATDDQFESPK 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