AutismKB 2.0

Annotation Detail for SAMD1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SAMD1 ( - )
Gene Full Name: sterile alpha motif domain containing 1
Band: 19p13.12
Quick LinksEntrez ID:90378; OMIM: NA; Uniprot ID:SAMD1_HUMAN; ENSEMBL ID: ; HGNC ID: 17958
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
fetus19 / 56401233
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult42 / 193912121
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor10 / 26384537
glioma10 / 10688393
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma6 / 7175583
non-neoplasia5 / 9725051
normal76 / 336030722
ovarian tumor5 / 7668265
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
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 
ascites1 / 4001524
bladder0 / 297570 
blood5 / 12347840
bone1 / 7165513
bone marrow0 / 488010 
brain22 / 110098919
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye6 / 21105428
heart2 / 8962622
intestine14 / 23447259
kidney4 / 21177718
larynx2 / 2414582
liver0 / 2077430 
lung6 / 33697417
lymph6 / 44270135
lymph node24 / 91610261
mammary gland4 / 15327126
mouth0 / 670520 
muscle5 / 10771546
nerve0 / 157680 
ovary6 / 10205158
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate2 / 18934510
salivary gland4 / 20155198
skin2 / 2105749
spleen1 / 5395218
stomach1 / 9661910
testis1 / 3304423
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
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_P435941
  • 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
Amygdala6.16 ± 0.28
Basal Forebrain6.25 ± 0.41
Basal Part of Pons6.08 ± 0.38
Cerebellar Cortex6.01 ± 0.4
Cerebellar Nuclei6.28 ± 0.44
Claustrum6 ± 0.46
Epithalamus6.27 ± 0.47
Frontal Lobe6.07 ± 0.35
Globus Pallidus6.37 ± 0.39
Hypothalamus6.03 ± 0.28
Insula6.01 ± 0.45
Limbic Lobe6.15 ± 0.38
Mesencephalon6.14 ± 0.41
Myelencephalon6.21 ± 0.37
Occipital Lobe6.19 ± 0.33
Parietal Lobe6.14 ± 0.32
Pontine Tegmentum6.11 ± 0.35
Striatum6.47 ± 0.37
Subthalamus6.03 ± 0.16
Temporal Lobe6.16 ± 0.35
Thalamus6.08 ± 0.41
White Matter6.73 ± 0.23
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