AutismKB 2.0

Annotation Detail for ELMOD1


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Basic Information Top
Gene Symbol:ELMOD1 ( DKFZp547C176 )
Gene Full Name: ELMO/CED-12 domain containing 1
Band: 11q22.3
Quick LinksEntrez ID:55531; OMIM: NA; Uniprot ID:ELMD1_HUMAN; ENSEMBL ID: ENSG00000110675; HGNC ID: 25334
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
blastocyst0 / 623190 
fetus8 / 56401214
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult17 / 19391218
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal54 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
bone0 / 716550 
bone marrow0 / 488010 
brain36 / 110098932
cervix0 / 481710 
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye10 / 21105447
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx2 / 2414582
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
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: A_23_P401774
  • 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
Amygdala8.86 ± 0.66
Basal Forebrain8.79 ± 0.58
Basal Part of Pons9.3 ± 0.44
Cerebellar Cortex9.15 ± 0.3
Cerebellar Nuclei9.49 ± 0.46
Claustrum8.74 ± 0.59
Epithalamus8.31 ± 0.39
Frontal Lobe9.61 ± 0.46
Globus Pallidus7.92 ± 0.55
Hypothalamus9.48 ± 0.16
Insula9.77 ± 0.36
Limbic Lobe9.21 ± 0.93
Mesencephalon9.17 ± 0.67
Myelencephalon9.18 ± 0.62
Occipital Lobe8.63 ± 0.8
Parietal Lobe9.35 ± 0.57
Pontine Tegmentum9.42 ± 0.56
Striatum9.51 ± 0.69
Subthalamus10.43 ± 0.4
Temporal Lobe9.44 ± 0.44
Thalamus9.32 ± 0.44
White Matter6.31 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Elmod1CBCerebellum65.6
100
Elmod1CTXCerebral cortex100
100
Elmod1HIPHippocampal region100
100
Elmod1HPFHippocampal formation100
100
Elmod1HYHypothalamus82.35
84.48
Elmod1LSXLateral septal complex86.27
90.62
Elmod1MBMidbrain86.59
97.05
Elmod1MYMedulla80
96.4
Elmod1OLFOlfactory bulb87.62
99.8
Elmod1PPons81.12
94.68
Elmod1PALPallidum87.97
99.91
Elmod1RHPRetrohippocampal region100
100
Elmod1sAMYStriatum-like amygdalar nuclei84.48
87.32
Elmod1STRStriatum100
100
Elmod1STRdStriatum dorsal region100
100
Elmod1STRvStriatum ventral region100
100
Elmod1THThalamus69.94
79.02
Peptide Top

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  (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