AutismKB 2.0

Annotation Detail for SAMD9L


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Basic Information Top
Gene Symbol:SAMD9L ( C7orf6,DRIF2,FLJ39885,KIAA2005,UEF1 )
Gene Full Name: sterile alpha motif domain containing 9-like
Band: 7q21.2
Quick LinksEntrez ID:219285; OMIM: 611170; Uniprot ID:SAM9L_HUMAN; ENSEMBL ID: ENSG00000177409; HGNC ID: 1349
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 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult29 / 193912114
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 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal55 / 336030716
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone2 / 7165527
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine3 / 23447212
kidney5 / 21177723
larynx0 / 241450 
liver4 / 20774319
lung6 / 33697417
lymph0 / 442700 
lymph node3 / 9161032
mammary gland3 / 15327119
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach2 / 9661920
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus13 / 23287855
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5733_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
Amygdala3.21 ± 0.85
Basal Forebrain2.83 ± 0.29
Basal Part of Pons2.95 ± 0.42
Cerebellar Cortex2.47 ± 0.36
Cerebellar Nuclei2.9 ± 0.7
Claustrum2.92 ± 0.48
Epithalamus3.31 ± 0.42
Frontal Lobe2.73 ± 0.54
Globus Pallidus4.28 ± 0.53
Hypothalamus2.82 ± 0.69
Insula2.7 ± 0.34
Limbic Lobe2.76 ± 0.62
Mesencephalon2.99 ± 0.73
Myelencephalon2.96 ± 0.55
Occipital Lobe2.89 ± 0.63
Parietal Lobe2.75 ± 0.66
Pontine Tegmentum2.91 ± 0.63
Striatum3.55 ± 0.45
Subthalamus2.43 ± 0.34
Temporal Lobe2.79 ± 0.55
Thalamus3.01 ± 0.48
White Matter3.02 ± 0.57
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SAM9L_HUMAN_572 19 572 590 GMENMLCISVNSHIYQRWK PRIDE

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