AutismKB 2.0

Annotation Detail for SAMHD1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SAMHD1 ( DCIP,HDDC1,MOP-5,SBBI88 )
Gene Full Name: SAM domain and HD domain 1
Band: 20q11.23
Quick LinksEntrez ID:25939; OMIM: 606754; Uniprot ID:SAMH1_HUMAN; ENSEMBL ID: ENSG00000101347; HGNC ID: 15925
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
blastocyst5 / 6231980
fetus15 / 56401226
neonate4 / 31097128
infant0 / 236200 
juvenile2 / 5555635
adult79 / 193912140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor4 / 17290231
gastrointestinal tumor1 / 1193698
germ cell tumor14 / 26384553
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia9 / 9725092
normal171 / 336030750
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood12 / 12347897
bone3 / 7165541
bone marrow2 / 4880140
brain42 / 110098938
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus4 / 20209197
eye5 / 21105423
heart1 / 8962611
intestine9 / 23447238
kidney5 / 21177723
larynx4 / 24145165
liver2 / 2077439
lung17 / 33697450
lymph1 / 4427022
lymph node3 / 9161032
mammary gland9 / 15327158
mouth3 / 6705244
muscle0 / 1077150 
nerve0 / 157680 
ovary4 / 10205139
pancreas1 / 2148124
parathyroid1 / 2053948
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta14 / 28082549
prostate4 / 18934521
salivary gland0 / 201550 
skin2 / 2105749
spleen10 / 53952185
stomach6 / 9661962
testis11 / 33044233
thymus2 / 8113124
thyroid4 / 4747384
tonsil1 / 1699958
trachea15 / 52413286
umbilical cord0 / 136800 
uterus18 / 23287877
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204502_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.5
Adipocyte22.4
AdrenalCortex12.3
Adrenalgland20.55
Amygdala10.35
Appendix14.3
AtrioventricularNode9.9
BDCA4+_DentriticCells637.85
Bonemarrow14.55
BronchialEpithelialCells9.5
CD105+_Endothelial9.65
CD14+_Monocytes507.7
CD19+_BCells(neg._sel.)8.95
CD33+_Myeloid992.3
CD34+47.35
CD4+_Tcells131.35
CD56+_NKCells160.8
CD71+_EarlyErythroid9.35
CD8+_Tcells92.25
CardiacMyocytes15.15
Caudatenucleus9.05
Cerebellum13.35
CerebellumPeduncles11.95
CiliaryGanglion9.15
CingulateCortex11.8
Colorectaladenocarcinoma9.8
DorsalRootGanglion8.75
FetalThyroid9.6
Fetalbrain10.1
Fetalliver10.75
Fetallung9.65
GlobusPallidus7.9
Heart15.3
Hypothalamus11.45
Kidney12.65
Leukemia_chronicMyelogenousK-5629
Leukemia_promyelocytic-HL-608.75
Leukemialymphoblastic(MOLT-4)7.5
Liver15.15
Lung11
Lymphnode13.4
Lymphoma_burkitts(Daudi)14
Lymphoma_burkitts(Raji)15.05
MedullaOblongata13.55
OccipitalLobe8.7
OlfactoryBulb34.35
Ovary7.05
Pancreas8.45
PancreaticIslet12.45
ParietalLobe11.25
Pituitary12.1
Placenta12.5
Pons11.4
PrefrontalCortex11.65
Prostate10.8
Salivarygland10.2
SkeletalMuscle16
Skin9.2
SmoothMuscle10.8
Spinalcord17.75
SubthalamicNucleus9.65
SuperiorCervicalGanglion19.1
TemporalLobe10.3
Testis9.45
TestisGermCell7.45
TestisIntersitial8.35
TestisLeydigCell10
TestisSeminiferousTubule8.2
Thalamus10.35
Thymus7.45
Thyroid11.7
Tongue10.85
Tonsil10.1
Trachea12.1
TrigeminalGanglion12.2
Uterus7.95
UterusCorpus11.45
WholeBlood85.7
Wholebrain7.95
colon11.7
pineal_day11.12
pineal_night10.84
retina11.65
small_intestine15.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6784_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
Amygdala5.04 ± 0.45
Basal Forebrain4.91 ± 0.2
Basal Part of Pons5.24 ± 0.47
Cerebellar Cortex5.08 ± 0.37
Cerebellar Nuclei5.35 ± 0.41
Claustrum4.54 ± 0.81
Epithalamus5.2 ± 0.27
Frontal Lobe5.05 ± 0.43
Globus Pallidus5.3 ± 0.48
Hypothalamus5.06 ± 0.53
Insula4.85 ± 0.38
Limbic Lobe4.94 ± 0.49
Mesencephalon5.03 ± 0.48
Myelencephalon4.98 ± 0.53
Occipital Lobe4.99 ± 0.47
Parietal Lobe5.08 ± 0.41
Pontine Tegmentum4.88 ± 0.48
Striatum4.55 ± 0.47
Subthalamus5.47 ± 0.38
Temporal Lobe5.07 ± 0.38
Thalamus4.91 ± 0.54
White Matter5.43 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Samhd1CBCerebellum2.04
2.08
Samhd1CTXCerebral cortex1.38
0.88
Samhd1HIPHippocampal region2.5
2.15
Samhd1HPFHippocampal formation2.09
1.68
Samhd1HYHypothalamus2.29
0.98
Samhd1LSXLateral septal complex7.03
4.15
Samhd1MBMidbrain1.75
1.14
Samhd1MYMedulla7.12
3.38
Samhd1OLFOlfactory bulb4.7
2.36
Samhd1PPons5.21
2.94
Samhd1PALPallidum1.85
0.98
Samhd1RHPRetrohippocampal region1.28
0.96
Samhd1sAMYStriatum-like amygdalar nuclei1.69
0.6
Samhd1STRStriatum1.57
0.76
Samhd1STRdStriatum dorsal region0.81
0.39
Samhd1STRvStriatum ventral region1.97
0.78
Samhd1THThalamus1.27
0.94
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001539 15 319 333 DCHHLGIQNNFDYKR Peptide Atlas
SAMH1_HUMAN_0 0 0 0 ADDYIEITGAGGK PRIDE
SAMH1_HUMAN_0 0 0 0 ADDYIEITGAGGKK PRIDE
SAMH1_HUMAN_0 0 0 0 DCHHLGIQNNFDYK PRIDE
SAMH1_HUMAN_0 0 0 0 FEHSLGVGYLAGCLVHALGEK PRIDE
SAMH1_HUMAN_0 0 0 0 LVQIHVDTMK PRIDE
SAMH1_HUMAN_0 0 0 0 NQVSQLLPEKFAEQLIR PRIDE
SAMH1_HUMAN_0 0 0 0 VGNIIDTMITDAFLK PRIDE
SAMH1_HUMAN_0 0 0 0 VINDPIHGHIELHPLLVR PRIDE
SAMH1_HUMAN_106 10 106 115 LVQIHVDTMK PRIDE
SAMH1_HUMAN_116 18 116 133 VINDPIHGHIELHPLLVR PRIDE
SAMH1_HUMAN_134 9 134 142 IIDTPQFQR PRIDE
SAMH1_HUMAN_148 16 148 163 QLGGGYYVFPGASHNR PRIDE
SAMH1_HUMAN_164 21 164 184 FEHSLGVGYLAGCLVHALGEK PRIDE
SAMH1_HUMAN_164 30 164 193 FEHSLGVGYLAGCLVHALGEKQPELQISER PRIDE
SAMH1_HUMAN_194 26 194 219 DVLCVQIAGLCHDLGHGPFSHMFDGR PRIDE
SAMH1_HUMAN_20 23 20 42 TPSNTPSAEADWSPGLELHPDYK PRIDE
SAMH1_HUMAN_220 10 220 229 FIPLARPEVK PRIDE
SAMH1_HUMAN_269 19 269 287 EQIVGPLESPVEDSLWPYK PRIDE
SAMH1_HUMAN_294 11 294 304 SFLYEIVSNKR PRIDE
SAMH1_HUMAN_305 13 305 317 NGIDVDKWDYFAR PRIDE
SAMH1_HUMAN_318 15 318 332 DCHHLGIQNNFDYKR PRIDE
SAMH1_HUMAN_339 9 339 347 VCEVDNELR PRIDE
SAMH1_HUMAN_352 14 352 365 DKEVGNLYDMFHTR PRIDE
SAMH1_HUMAN_377 15 377 391 VGNIIDTMITDAFLK PRIDE
SAMH1_HUMAN_377 29 377 405 VGNIIDTMITDAFLKADDYIEITGAGGKK PRIDE
SAMH1_HUMAN_392 14 392 405 ADDYIEITGAGGKK PRIDE
SAMH1_HUMAN_402 7 402 408 AGGKKYR PRIDE
SAMH1_HUMAN_408 13 408 420 ISTAIDDMEAYTK PRIDE
SAMH1_HUMAN_421 16 421 436 LTDNIFLEILYSTDPK PRIDE
SAMH1_HUMAN_43 12 43 54 TWGPEQVCSFLR PRIDE
SAMH1_HUMAN_455 12 455 466 YVGETQPTGQIK PRIDE
SAMH1_HUMAN_467 11 467 477 IKREDYESLPK PRIDE
SAMH1_HUMAN_469 17 469 485 REDYESLPKEVASAKPK PRIDE
SAMH1_HUMAN_469 9 469 477 REDYESLPK PRIDE
SAMH1_HUMAN_492 20 492 511 LKAEDFIVDVINMDYGMQEK PRIDE
SAMH1_HUMAN_492 31 492 522 LKAEDFIVDVINMDYGMQEKNPIDHVSFYCK PRIDE
SAMH1_HUMAN_512 11 512 522 NPIDHVSFYCK PRIDE
SAMH1_HUMAN_534 10 534 543 NQVSQLLPEK PRIDE
SAMH1_HUMAN_534 17 534 550 NQVSQLLPEKFAEQLIR PRIDE
SAMH1_HUMAN_544 7 544 550 FAEQLIR PRIDE
SAMH1_HUMAN_55 11 55 65 RGGFEEPVLLK PRIDE
SAMH1_HUMAN_56 10 56 65 GGFEEPVLLK PRIDE
SAMH1_HUMAN_566 30 566 595 QYFVQWCADRNFTKPQDGDVIAPLITPQKK PRIDE
SAMH1_HUMAN_576 20 576 595 NFTKPQDGDVIAPLITPQKK PRIDE
SAMH1_HUMAN_596 13 596 608 EWNDSTSVQNPTR PRIDE
SAMH1_HUMAN_617 9 617 625 VQLFKDDPM PRIDE
SAMH1_HUMAN_69 16 69 84 ENEITGALLPCLDESR PRIDE
SAMH1_HUMAN_85 12 85 96 FENLGVSSLGER PRIDE
SAMH1_HUMAN_99 7 99 105 LLSYIQR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved