AutismKB 2.0

Annotation Detail for SAV1


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Basic Information Top
Gene Symbol:SAV1 ( SAV,WW45,WWP4 )
Gene Full Name: salvador homolog 1 (Drosophila)
Band: 14q22.1
Quick LinksEntrez ID:60485; OMIM: 607203; Uniprot ID:SAV1_HUMAN; ENSEMBL ID: ENSG00000151748; HGNC ID: 17795
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 body8 / 70761113
blastocyst3 / 6231948
fetus21 / 56401237
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult70 / 193912136
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) tumor1 / 9417810
cervical tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor16 / 26384560
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal137 / 336030740
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
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 gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone3 / 7165541
bone marrow3 / 4880161
brain39 / 110098935
cervix3 / 4817162
connective tissue6 / 14925540
ear2 / 16212123
embryonic tissue19 / 21572288
esophagus0 / 202090 
eye4 / 21105418
heart3 / 8962633
intestine2 / 2344728
kidney14 / 21177766
larynx0 / 241450 
liver8 / 20774338
lung8 / 33697423
lymph1 / 4427022
lymph node2 / 9161021
mammary gland5 / 15327132
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta17 / 28082560
prostate0 / 1893450 
salivary gland0 / 201550 
skin9 / 21057442
spleen1 / 5395218
stomach5 / 9661951
testis31 / 33044293
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus6 / 23287825
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218276_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.95
Adipocyte6.95
AdrenalCortex6.3
Adrenalgland5.05
Amygdala6.1
Appendix6.9
AtrioventricularNode4.65
BDCA4+_DentriticCells6.2
Bonemarrow5.8
BronchialEpithelialCells5.85
CD105+_Endothelial6.15
CD14+_Monocytes6.3
CD19+_BCells(neg._sel.)80.2
CD33+_Myeloid6.55
CD34+12.65
CD4+_Tcells6.25
CD56+_NKCells6.65
CD71+_EarlyErythroid5.55
CD8+_Tcells5.3
CardiacMyocytes8
Caudatenucleus5.3
Cerebellum4.55
CerebellumPeduncles6.65
CiliaryGanglion4.75
CingulateCortex5.95
Colorectaladenocarcinoma10.5
DorsalRootGanglion4.7
FetalThyroid5.7
Fetalbrain5.9
Fetalliver5.1
Fetallung6.7
GlobusPallidus4.35
Heart7.85
Hypothalamus6.85
Kidney4.9
Leukemia_chronicMyelogenousK-5625.3
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)4.75
Liver7.75
Lung6
Lymphnode5.15
Lymphoma_burkitts(Daudi)7.6
Lymphoma_burkitts(Raji)8.05
MedullaOblongata5.3
OccipitalLobe5.15
OlfactoryBulb4.8
Ovary4.2
Pancreas5
PancreaticIslet7.15
ParietalLobe6.15
Pituitary6.9
Placenta6.8
Pons5.55
PrefrontalCortex7.5
Prostate8.65
Salivarygland36.2
SkeletalMuscle7.25
Skin4.75
SmoothMuscle6.5
Spinalcord6.35
SubthalamicNucleus5.25
SuperiorCervicalGanglion7.05
TemporalLobe5.25
Testis5.05
TestisGermCell19.35
TestisIntersitial5.05
TestisLeydigCell6.5
TestisSeminiferousTubule5.1
Thalamus6
Thymus4.3
Thyroid29.75
Tongue6
Tonsil5.65
Trachea6.7
TrigeminalGanglion6.7
Uterus5.05
UterusCorpus5.95
WholeBlood6.35
Wholebrain4.7
colon5.9
pineal_day14.16
pineal_night18.6
retina11.975
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P65555
  • 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
Amygdala6.41 ± 0.37
Basal Forebrain6.92 ± 0.29
Basal Part of Pons6.42 ± 0.34
Cerebellar Cortex6.58 ± 0.21
Cerebellar Nuclei7.12 ± 0.26
Claustrum6.36 ± 0.31
Epithalamus7.09 ± 0.13
Frontal Lobe6.57 ± 0.36
Globus Pallidus7.42 ± 0.21
Hypothalamus6.65 ± 0.19
Insula6.36 ± 0.18
Limbic Lobe6.49 ± 0.35
Mesencephalon6.79 ± 0.35
Myelencephalon6.72 ± 0.36
Occipital Lobe6.91 ± 0.31
Parietal Lobe6.65 ± 0.31
Pontine Tegmentum6.75 ± 0.32
Striatum7.14 ± 0.46
Subthalamus6.8 ± 0.06
Temporal Lobe6.5 ± 0.29
Thalamus6.8 ± 0.21
White Matter8.1 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sav1CBCerebellum7.37
11.15
Sav1CTXCerebral cortex13.09
9.82
Sav1HIPHippocampal region21
20.35
Sav1HPFHippocampal formation18.24
16.45
Sav1HYHypothalamus13.13
9.88
Sav1LSXLateral septal complex10.98
10.83
Sav1MBMidbrain8.37
8.04
Sav1MYMedulla7.19
10.86
Sav1OLFOlfactory bulb22.15
18.08
Sav1PPons11.35
14.52
Sav1PALPallidum7.83
7.23
Sav1RHPRetrohippocampal region13
10.67
Sav1sAMYStriatum-like amygdalar nuclei15.71
11.23
Sav1STRStriatum7
5.42
Sav1STRdStriatum dorsal region3.26
2.45
Sav1STRvStriatum ventral region12.17
8.91
Sav1THThalamus11.2
8.42
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


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