AutismKB 2.0

Annotation Detail for MKKS


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Basic Information Top
Gene Symbol:MKKS ( BBS6,HMCS,KMS,MKS )
Gene Full Name: McKusick-Kaufman syndrome
Band: 20p12.2
Quick LinksEntrez ID:8195; OMIM: 604896; Uniprot ID:MKKS_HUMAN; ENSEMBL ID: ENSG00000125863; HGNC ID: 7108
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 body5 / 7076170
blastocyst3 / 6231948
fetus43 / 56401276
neonate2 / 3109764
infant2 / 2362084
juvenile5 / 5555689
adult98 / 193912150
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) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor17 / 26384564
glioma8 / 10688374
head and neck tumor10 / 13630273
kidney tumor6 / 6895987
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal219 / 336030765
ovarian tumor4 / 7668252
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor7 / 12494956
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood4 / 12347832
bone2 / 7165527
bone marrow0 / 488010 
brain105 / 110098995
cervix3 / 4817162
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus2 / 2020998
eye21 / 21105499
heart8 / 8962689
intestine10 / 23447242
kidney14 / 21177766
larynx0 / 241450 
liver13 / 20774362
lung12 / 33697435
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth7 / 67052104
muscle1 / 1077159
nerve1 / 1576863
ovary4 / 10205139
pancreas7 / 21481232
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta11 / 28082539
prostate11 / 18934558
salivary gland1 / 2015549
skin11 / 21057452
spleen6 / 53952111
stomach11 / 96619113
testis25 / 33044275
thymus6 / 8113173
thyroid1 / 4747321
tonsil1 / 1699958
trachea5 / 5241395
umbilical cord1 / 1368073
uterus21 / 23287890
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218138_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.75
Adipocyte6.7
AdrenalCortex6.75
Adrenalgland5.6
Amygdala21.5
Appendix6.6
AtrioventricularNode6.35
BDCA4+_DentriticCells14.4
Bonemarrow6.3
BronchialEpithelialCells6.7
CD105+_Endothelial6.65
CD14+_Monocytes27.5
CD19+_BCells(neg._sel.)8.9
CD33+_Myeloid10.1
CD34+9.45
CD4+_Tcells7.9
CD56+_NKCells8.35
CD71+_EarlyErythroid6
CD8+_Tcells9.85
CardiacMyocytes8.5
Caudatenucleus16.85
Cerebellum5.65
CerebellumPeduncles10.65
CiliaryGanglion4.65
CingulateCortex21.2
Colorectaladenocarcinoma8.45
DorsalRootGanglion5.05
FetalThyroid8.9
Fetalbrain14.15
Fetalliver5.55
Fetallung5.75
GlobusPallidus16.45
Heart8.3
Hypothalamus19.95
Kidney5.55
Leukemia_chronicMyelogenousK-5625.8
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)12.1
Liver8.45
Lung7
Lymphnode5.9
Lymphoma_burkitts(Daudi)7.85
Lymphoma_burkitts(Raji)9.2
MedullaOblongata18.1
OccipitalLobe20.6
OlfactoryBulb5.95
Ovary4.75
Pancreas5.3
PancreaticIslet7.95
ParietalLobe14.5
Pituitary10.45
Placenta6.55
Pons13.65
PrefrontalCortex30.2
Prostate8.15
Salivarygland5.35
SkeletalMuscle7.55
Skin4.95
SmoothMuscle6.75
Spinalcord7.85
SubthalamicNucleus13.1
SuperiorCervicalGanglion7.3
TemporalLobe17.5
Testis10.5
TestisGermCell10.75
TestisIntersitial13.25
TestisLeydigCell9
TestisSeminiferousTubule8.15
Thalamus19.15
Thymus5.3
Thyroid17.35
Tongue6.7
Tonsil6.2
Trachea5.45
TrigeminalGanglion6.5
Uterus5.65
UterusCorpus5.75
WholeBlood7.8
Wholebrain16.55
colon7.4
pineal_day16.68
pineal_night16.32
retina8.65
small_intestine6.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P100664
  • 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
Amygdala7.83 ± 0.39
Basal Forebrain7.64 ± 0.23
Basal Part of Pons8.31 ± 0.18
Cerebellar Cortex7.49 ± 0.28
Cerebellar Nuclei8.14 ± 0.43
Claustrum7.54 ± 0.61
Epithalamus7.68 ± 0.43
Frontal Lobe8.09 ± 0.38
Globus Pallidus7.92 ± 0.44
Hypothalamus8.19 ± 0.31
Insula8.1 ± 0.45
Limbic Lobe7.8 ± 0.61
Mesencephalon7.76 ± 0.47
Myelencephalon7.79 ± 0.56
Occipital Lobe7.34 ± 0.59
Parietal Lobe7.96 ± 0.37
Pontine Tegmentum7.85 ± 0.42
Striatum7.8 ± 0.53
Subthalamus8.45 ± 0.26
Temporal Lobe7.99 ± 0.33
Thalamus7.74 ± 0.38
White Matter7.37 ± 0.12
Mouse Brain ISH
Peptide Top

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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