AutismKB 2.0

Annotation Detail for RUSC2


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Basic Information Top
Gene Symbol:RUSC2 ( Iporin,KIAA0375 )
Gene Full Name: RUN and SH3 domain containing 2
Band: 9p13.3
Quick LinksEntrez ID:9853; OMIM: 611053; Uniprot ID:RUSC2_HUMAN; ENSEMBL ID: ENSG00000198853; HGNC ID: 23625
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
blastocyst1 / 6231916
fetus12 / 56401221
neonate0 / 310970 
infant2 / 2362084
juvenile2 / 5555635
adult58 / 193912129
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor1 / 2638453
glioma7 / 10688365
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal96 / 336030728
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow2 / 4880140
brain53 / 110098948
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye15 / 21105471
heart0 / 896260 
intestine4 / 23447217
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth0 / 670520 
muscle2 / 10771518
nerve4 / 15768253
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta2 / 2808257
prostate0 / 1893450 
salivary gland6 / 20155297
skin9 / 21057442
spleen0 / 539520 
stomach2 / 9661920
testis12 / 33044236
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213066_at
Cell line Expression level Expression bar
721_B_lymphoblasts49.75
Adipocyte84.95
AdrenalCortex103.7
Adrenalgland89.45
Amygdala109.3
Appendix87.25
AtrioventricularNode63.35
BDCA4+_DentriticCells35.8
Bonemarrow87.05
BronchialEpithelialCells57.45
CD105+_Endothelial61.7
CD14+_Monocytes71.75
CD19+_BCells(neg._sel.)27.7
CD33+_Myeloid111.3
CD34+58
CD4+_Tcells56.65
CD56+_NKCells62.25
CD71+_EarlyErythroid70.05
CD8+_Tcells40.65
CardiacMyocytes106.35
Caudatenucleus147.1
Cerebellum168.25
CerebellumPeduncles214.65
CiliaryGanglion61.6
CingulateCortex215.2
Colorectaladenocarcinoma64.35
DorsalRootGanglion66
FetalThyroid86.9
Fetalbrain171.05
Fetalliver73.7
Fetallung71.45
GlobusPallidus79.15
Heart107.25
Hypothalamus161
Kidney77.15
Leukemia_chronicMyelogenousK-56278.1
Leukemia_promyelocytic-HL-6075.65
Leukemialymphoblastic(MOLT-4)69.5
Liver85.2
Lung94.5
Lymphnode73.8
Lymphoma_burkitts(Daudi)109.2
Lymphoma_burkitts(Raji)114.1
MedullaOblongata161.35
OccipitalLobe84.05
OlfactoryBulb68.1
Ovary72.75
Pancreas59.95
PancreaticIslet75.85
ParietalLobe190.5
Pituitary123.65
Placenta86.4
Pons149.9
PrefrontalCortex199.65
Prostate77.95
Salivarygland68.6
SkeletalMuscle98.65
Skin64.05
SmoothMuscle135.9
Spinalcord114.5
SubthalamicNucleus108.1
SuperiorCervicalGanglion98
TemporalLobe201.35
Testis93.95
TestisGermCell100.15
TestisIntersitial84.25
TestisLeydigCell137.15
TestisSeminiferousTubule137.5
Thalamus130.9
Thymus46.7
Thyroid80.85
Tongue84
Tonsil83.7
Trachea86.45
TrigeminalGanglion111.35
Uterus57.1
UterusCorpus77.9
WholeBlood40.05
Wholebrain174.05
colon44.85
pineal_day97.44
pineal_night95.2
retina119.175
small_intestine25.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P216549
  • 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
Amygdala8.16 ± 0.49
Basal Forebrain8.18 ± 0.12
Basal Part of Pons8.56 ± 0.14
Cerebellar Cortex8.51 ± 0.24
Cerebellar Nuclei8.26 ± 0.25
Claustrum8.1 ± 0.2
Epithalamus7.9 ± 0.32
Frontal Lobe8.49 ± 0.29
Globus Pallidus7.63 ± 0.21
Hypothalamus8.31 ± 0.24
Insula8.5 ± 0.22
Limbic Lobe8.43 ± 0.33
Mesencephalon8.27 ± 0.27
Myelencephalon8.38 ± 0.34
Occipital Lobe8.28 ± 0.28
Parietal Lobe8.41 ± 0.36
Pontine Tegmentum8.27 ± 0.32
Striatum7.87 ± 0.41
Subthalamus8.34 ± 0.13
Temporal Lobe8.48 ± 0.27
Thalamus8.44 ± 0.23
White Matter7.78 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rusc2CBCerebellum34.99
46.51
Rusc2CTXCerebral cortex100
80.89
Rusc2HIPHippocampal region48.12
57.7
Rusc2HPFHippocampal formation66.39
68.22
Rusc2HYHypothalamus35.52
28.59
Rusc2LSXLateral septal complex36.85
28.67
Rusc2MBMidbrain34.78
32.65
Rusc2MYMedulla49.68
57.88
Rusc2OLFOlfactory bulb77.56
70.22
Rusc2PPons42.93
49.25
Rusc2PALPallidum46.05
45.56
Rusc2RHPRetrohippocampal region99.29
84.98
Rusc2sAMYStriatum-like amygdalar nuclei70.26
52.41
Rusc2STRStriatum38.69
29.12
Rusc2STRdStriatum dorsal region37.73
28.8
Rusc2STRvStriatum ventral region24.69
17.49
Rusc2THThalamus74.14
68.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RUSC2_HUMAN_1084 8 1084 1091 VLHGLYNK PRIDE
RUSC2_HUMAN_1105 12 1105 1116 FNAFILGLLNIR PRIDE
RUSC2_HUMAN_1178 9 1178 1186 LLQSGQQQR PRIDE
RUSC2_HUMAN_1363 23 1363 1385 EGPAASPAENEEGASEPSPGGIK PRIDE
RUSC2_HUMAN_1480 7 1480 1486 AGGDWLR PRIDE
RUSC2_HUMAN_524 16 524 539 LSEGPAAMAGPGSPPR PRIDE
RUSC2_HUMAN_670 13 670 682 ADGGGTESRPVLR PRIDE
RUSC2_HUMAN_712 16 712 727 ALHSLSQLYSLSGCSR PRIDE
RUSC2_HUMAN_765 20 765 784 AGSEPETSRPSPLGSYSPIR PRIDE
RUSC2_HUMAN_873 23 873 895 GGGEGSMATRPSNANHLSPQALK PRIDE
RUSC2_HUMAN_903 14 903 916 NPLGPPGLSGSLDR PRIDE
RUSC2_HUMAN_903 15 903 917 NPLGPPGLSGSLDRR 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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