AutismKB 2.0

Annotation Detail for JAKMIP1


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Basic Information Top
Gene Symbol:JAKMIP1 ( FLJ31564,Gababrbp,JAMIP1,MARLIN1 )
Gene Full Name: janus kinase and microtubule interacting protein 1
Band: 4p16.1
Quick LinksEntrez ID:152789; OMIM: 611195; Uniprot ID:JKIP1_HUMAN; ENSEMBL ID: ENSG00000152969; HGNC ID: 26460
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 body0 / 707610 
blastocyst0 / 623190 
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult18 / 19391219
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal81 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain61 / 110098955
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye11 / 21105452
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14918_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
Amygdala9.79 ± 0.46
Basal Forebrain9.12 ± 0.29
Basal Part of Pons8.62 ± 0.4
Cerebellar Cortex8.25 ± 0.33
Cerebellar Nuclei8.18 ± 0.49
Claustrum9.9 ± 0.78
Epithalamus8.2 ± 0.54
Frontal Lobe8.9 ± 0.52
Globus Pallidus8.3 ± 0.92
Hypothalamus8.43 ± 0.87
Insula8.94 ± 0.45
Limbic Lobe9.51 ± 0.53
Mesencephalon8.95 ± 0.84
Myelencephalon9.01 ± 0.64
Occipital Lobe9.16 ± 0.49
Parietal Lobe9.05 ± 0.64
Pontine Tegmentum8.88 ± 0.52
Striatum10.21 ± 0.37
Subthalamus8.76 ± 0.27
Temporal Lobe9.03 ± 0.43
Thalamus8.71 ± 0.51
White Matter6.94 ± 1.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Jakmip1CBCerebellum0
0
Jakmip1CTXCerebral cortex0
0
Jakmip1HIPHippocampal region0
0
Jakmip1HPFHippocampal formation0
0
Jakmip1HYHypothalamus0
0
Jakmip1LSXLateral septal complex0
0
Jakmip1MBMidbrain0
0
Jakmip1MYMedulla0
0
Jakmip1OLFOlfactory bulb0
0
Jakmip1PPons0
0
Jakmip1PALPallidum0
0
Jakmip1RHPRetrohippocampal region0
0
Jakmip1sAMYStriatum-like amygdalar nuclei0
0
Jakmip1STRStriatum0
0
Jakmip1STRdStriatum dorsal region0
0
Jakmip1STRvStriatum ventral region0
0
Jakmip1THThalamus0
0
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