AutismKB 2.0

Annotation Detail for SIPA1L1


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Basic Information Top
Gene Symbol:SIPA1L1 ( DKFZp686G1344,E6TP1,KIAA0440 )
Gene Full Name: signal-induced proliferation-associated 1 like 1
Band: 14q24.1
Quick LinksEntrez ID:26037; OMIM: NA; Uniprot ID:SI1L1_HUMAN; ENSEMBL ID: ENSG00000197555; HGNC ID: 20284
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 body5 / 7076170
blastocyst3 / 6231948
fetus38 / 56401267
neonate4 / 31097128
infant0 / 236200 
juvenile2 / 5555635
adult112 / 193912157
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma10 / 82823120
colorectal tumor5 / 11424643
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor3 / 26384511
glioma9 / 10688384
head and neck tumor7 / 13630251
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor9 / 10312787
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal232 / 336030769
ovarian tumor5 / 7668265
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood11 / 12347889
bone6 / 7165583
bone marrow1 / 4880120
brain95 / 110098986
cervix2 / 4817141
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus2 / 2020998
eye10 / 21105447
heart3 / 8962633
intestine7 / 23447229
kidney11 / 21177751
larynx2 / 2414582
liver8 / 20774338
lung23 / 33697468
lymph0 / 442700 
lymph node9 / 9161098
mammary gland7 / 15327145
mouth4 / 6705259
muscle5 / 10771546
nerve0 / 157680 
ovary6 / 10205158
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta11 / 28082539
prostate1 / 1893455
salivary gland0 / 201550 
skin8 / 21057437
spleen8 / 53952148
stomach7 / 9661972
testis25 / 33044275
thymus3 / 8113136
thyroid3 / 4747363
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord4 / 13680292
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202255_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts59.2
Adipocyte16.8
AdrenalCortex26.5
Adrenalgland41.85
Amygdala83.35
Appendix31
AtrioventricularNode23.3
BDCA4+_DentriticCells23.45
Bonemarrow30.1
BronchialEpithelialCells31.95
CD105+_Endothelial6.3
CD14+_Monocytes58.35
CD19+_BCells(neg._sel.)98.8
CD33+_Myeloid45.3
CD34+7.35
CD4+_Tcells33.55
CD56+_NKCells37.05
CD71+_EarlyErythroid37.65
CD8+_Tcells36.2
CardiacMyocytes38.65
Caudatenucleus71.8
Cerebellum33.1
CerebellumPeduncles41.4
CiliaryGanglion25.6
CingulateCortex42.8
Colorectaladenocarcinoma31.5
DorsalRootGanglion27.6
FetalThyroid28.9
Fetalbrain20.3
Fetalliver26.55
Fetallung27.75
GlobusPallidus37.1
Heart38.8
Hypothalamus36.9
Kidney29.55
Leukemia_chronicMyelogenousK-56225
Leukemia_promyelocytic-HL-6025.7
Leukemialymphoblastic(MOLT-4)21.1
Liver39.2
Lung23.95
Lymphnode26.85
Lymphoma_burkitts(Daudi)41
Lymphoma_burkitts(Raji)42.45
MedullaOblongata49.4
OccipitalLobe46.5
OlfactoryBulb37.6
Ovary26.35
Pancreas21.75
PancreaticIslet28.8
ParietalLobe40.1
Pituitary68.9
Placenta48.55
Pons41.75
PrefrontalCortex124.15
Prostate28.95
Salivarygland20.6
SkeletalMuscle35.05
Skin23.05
SmoothMuscle179.15
Spinalcord47.95
SubthalamicNucleus42.45
SuperiorCervicalGanglion34.35
TemporalLobe32.45
Testis44.9
TestisGermCell35.1
TestisIntersitial21.3
TestisLeydigCell31.2
TestisSeminiferousTubule33.5
Thalamus22.85
Thymus25.1
Thyroid39
Tongue32.9
Tonsil30
Trachea30.9
TrigeminalGanglion30.1
Uterus23.3
UterusCorpus27.35
WholeBlood71.15
Wholebrain47.85
colon33.7
pineal_day24.18
pineal_night21.62
retina37.275
small_intestine31
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P344053
  • 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
Amygdala5.96 ± 0.53
Basal Forebrain5.81 ± 0.37
Basal Part of Pons5.62 ± 0.52
Cerebellar Cortex5.45 ± 0.39
Cerebellar Nuclei4.83 ± 0.85
Claustrum5.53 ± 0.48
Epithalamus5.66 ± 0.7
Frontal Lobe5.43 ± 0.58
Globus Pallidus3.98 ± 0.56
Hypothalamus5.13 ± 0.52
Insula5.59 ± 0.51
Limbic Lobe5.73 ± 0.69
Mesencephalon5.22 ± 0.6
Myelencephalon5.41 ± 0.64
Occipital Lobe5.53 ± 0.59
Parietal Lobe5.55 ± 0.58
Pontine Tegmentum5.41 ± 0.63
Striatum6.19 ± 0.54
Subthalamus5.09 ± 0.37
Temporal Lobe5.62 ± 0.54
Thalamus4.88 ± 0.68
White Matter3.58 ± 0.87
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sipa1l1CBCerebellum52.13
61.62
Sipa1l1CTXCerebral cortex100
100
Sipa1l1HIPHippocampal region100
100
Sipa1l1HPFHippocampal formation97.75
100
Sipa1l1HYHypothalamus26.67
23.17
Sipa1l1LSXLateral septal complex98.91
96.01
Sipa1l1MBMidbrain26.88
27.5
Sipa1l1MYMedulla37.52
44.04
Sipa1l1OLFOlfactory bulb100
100
Sipa1l1PPons25.64
28.61
Sipa1l1PALPallidum45.6
47.44
Sipa1l1RHPRetrohippocampal region94.25
99.3
Sipa1l1sAMYStriatum-like amygdalar nuclei84.13
83.1
Sipa1l1STRStriatum100
100
Sipa1l1STRdStriatum dorsal region100
100
Sipa1l1STRvStriatum ventral region100
100
Sipa1l1THThalamus23.91
27.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000691 32 1694 1725 ASFFAASDENHRPLSAASNSDQLEDQALAQMK Peptide Atlas
SI1L1_HUMAN_1170 10 1170 1179 SMPEGFGVSR PRIDE
SI1L1_HUMAN_1489 15 1489 1503 KPEGTINSVGFMDTR 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


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