AutismKB 2.0

Annotation Detail for RIMS1


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Basic Information Top
Gene Symbol:RIMS1 ( CORD7,KIAA0340,MGC167823,MGC176677,RAB3IP2,RIM,RIM1 )
Gene Full Name: regulating synaptic membrane exocytosis 1
Band: 6q13
Quick LinksEntrez ID:22999; OMIM: 606629; Uniprot ID:RIMS1_HUMAN; ENSEMBL ID: ENSG00000079841; HGNC ID: 17282
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 
fetus12 / 56401221
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult8 / 19391214
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal80 / 336030723
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain71 / 110098964
cervix0 / 481710 
connective tissue0 / 1492550 
ear1 / 1621261
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine1 / 2344724
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216184_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.65
Adipocyte7.4
AdrenalCortex9.1
Adrenalgland6.55
Amygdala7.9
Appendix8.55
AtrioventricularNode10.4
BDCA4+_DentriticCells6.6
Bonemarrow7.85
BronchialEpithelialCells7.1
CD105+_Endothelial7.75
CD14+_Monocytes7.95
CD19+_BCells(neg._sel.)7.6
CD33+_Myeloid8.4
CD34+8.35
CD4+_Tcells7.65
CD56+_NKCells8.35
CD71+_EarlyErythroid7.1
CD8+_Tcells6.5
CardiacMyocytes13.15
Caudatenucleus6.6
Cerebellum13.85
CerebellumPeduncles49.1
CiliaryGanglion6.45
CingulateCortex7.9
Colorectaladenocarcinoma7.1
DorsalRootGanglion6.6
FetalThyroid7.25
Fetalbrain8.6
Fetalliver6.65
Fetallung5.35
GlobusPallidus12.2
Heart10.9
Hypothalamus7.75
Kidney8.4
Leukemia_chronicMyelogenousK-5626.4
Leukemia_promyelocytic-HL-606.4
Leukemialymphoblastic(MOLT-4)5.75
Liver10.85
Lung8.6
Lymphnode6.1
Lymphoma_burkitts(Daudi)9.65
Lymphoma_burkitts(Raji)10.5
MedullaOblongata6.7
OccipitalLobe13.65
OlfactoryBulb5.65
Ovary5.5
Pancreas6.25
PancreaticIslet7.95
ParietalLobe19.65
Pituitary8.5
Placenta7.35
Pons7.35
PrefrontalCortex8.45
Prostate8.7
Salivarygland6.2
SkeletalMuscle48.35
Skin6.5
SmoothMuscle8.15
Spinalcord8.05
SubthalamicNucleus10
SuperiorCervicalGanglion11.1
TemporalLobe7.3
Testis6.35
TestisGermCell5.95
TestisIntersitial6.35
TestisLeydigCell7.65
TestisSeminiferousTubule6.5
Thalamus9.9
Thymus5.35
Thyroid8.95
Tongue9.85
Tonsil7.3
Trachea6.15
TrigeminalGanglion8.55
Uterus6.05
UterusCorpus19.6
WholeBlood6.2
Wholebrain6
colon7.45
pineal_day8.74
pineal_night8.46
retina8.85
small_intestine7.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13778_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
Amygdala9.81 ± 0.58
Basal Forebrain8.81 ± 0.21
Basal Part of Pons9.94 ± 0.25
Cerebellar Cortex9.89 ± 0.21
Cerebellar Nuclei8.66 ± 0.62
Claustrum10 ± 0.46
Epithalamus8.01 ± 0.93
Frontal Lobe9.29 ± 0.56
Globus Pallidus7.32 ± 0.7
Hypothalamus8.65 ± 0.65
Insula9.41 ± 0.43
Limbic Lobe9.65 ± 0.56
Mesencephalon8.94 ± 0.83
Myelencephalon9.15 ± 0.69
Occipital Lobe9.12 ± 0.54
Parietal Lobe9.35 ± 0.6
Pontine Tegmentum9.02 ± 0.43
Striatum8.53 ± 0.47
Subthalamus9.38 ± 0.36
Temporal Lobe9.48 ± 0.41
Thalamus9.27 ± 0.45
White Matter6.98 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rims1CBCerebellum51.13
66.35
Rims1CTXCerebral cortex59.6
48.17
Rims1HIPHippocampal region30.19
40.06
Rims1HPFHippocampal formation31.25
35.37
Rims1HYHypothalamus4.42
4.46
Rims1LSXLateral septal complex2.62
2.39
Rims1MBMidbrain9.17
10.04
Rims1MYMedulla17.64
22.25
Rims1OLFOlfactory bulb39.72
39.27
Rims1PPons13.61
17.42
Rims1PALPallidum7.01
8.17
Rims1RHPRetrohippocampal region33
29.43
Rims1sAMYStriatum-like amygdalar nuclei7.22
6.32
Rims1STRStriatum4.62
4.67
Rims1STRdStriatum dorsal region4.64
5.01
Rims1STRvStriatum ventral region4.6
4.1
Rims1THThalamus30.82
27.79
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RIMS1_HUMAN_1096 16 1096 1111 FTDEILVSELQPFLDR PRIDE
RIMS1_HUMAN_1114 18 1114 1131 SASTNCLRPDTSLHSPER PRIDE
RIMS1_HUMAN_1114 20 1114 1133 SASTNCLRPDTSLHSPERER PRIDE
RIMS1_HUMAN_1186 8 1186 1193 VLPTCLSR PRIDE
RIMS1_HUMAN_1201 8 1201 1208 ATDQPVIR PRIDE
RIMS1_HUMAN_1252 15 1252 1266 SPTQSPPADTSFSSR PRIDE
RIMS1_HUMAN_1278 14 1278 1291 SGSIEQASLVVEER PRIDE
RIMS1_HUMAN_1359 15 1359 1373 LSSTSFMSEQSERPR PRIDE
RIMS1_HUMAN_1448 13 1448 1460 STSQLSQTESGHK PRIDE
RIMS1_HUMAN_1464 5 1464 1468 STIQR PRIDE
RIMS1_HUMAN_1488 22 1488 1509 ESTDGSINSYSSEGNLIFPGVR PRIDE
RIMS1_HUMAN_157 10 157 166 VVMWVCNLCR PRIDE
RIMS1_HUMAN_1571 8 1571 1578 STPAPYVK PRIDE
RIMS1_HUMAN_218 24 218 241 SQTPLSTAAASSQDAAPPSAPPDR PRIDE
RIMS1_HUMAN_244 14 244 257 GAEPSQQALGPEQK PRIDE
RIMS1_HUMAN_274 10 274 283 TPGLSEQNGK PRIDE
RIMS1_HUMAN_296 13 296 308 TSAQPVEGAVEER PRIDE
RIMS1_HUMAN_34 9 34 42 NIIMAVMDR PRIDE
RIMS1_HUMAN_390 8 390 397 HSDVALPR PRIDE
RIMS1_HUMAN_398 11 398 408 TEAGAALPEGK PRIDE
RIMS1_HUMAN_443 11 443 453 QLTNHSPPAPR PRIDE
RIMS1_HUMAN_454 12 454 465 HGPVPAEAPELK PRIDE
RIMS1_HUMAN_466 6 466 471 AQEPLR PRIDE
RIMS1_HUMAN_476 10 476 485 LDPSSAVLMR PRIDE
RIMS1_HUMAN_492 6 492 497 VETMLR PRIDE
RIMS1_HUMAN_576 16 576 591 ETSPISSHPVTWQPSK PRIDE
RIMS1_HUMAN_611 9 611 619 DSGALLGLK PRIDE
RIMS1_HUMAN_719 18 719 736 MERPSISVISPTSPGALK PRIDE
RIMS1_HUMAN_72 12 72 83 NAENQPHQPSPR PRIDE
RIMS1_HUMAN_784 7 784 790 MYFLPDR PRIDE
RIMS1_HUMAN_827 11 827 837 MLEITVWDQPR PRIDE
RIMS1_HUMAN_888 9 888 896 HIHGESSSK PRIDE
RIMS1_HUMAN_935 11 935 945 STTLTVPEQQR PRIDE
RIMS1_HUMAN_959 10 959 968 GNDQGKPRSR PRIDE
RIMS1_HUMAN_977 9 977 985 SLDEIHPTR PRIDE
RIMS1_HUMAN_98 6 98 103 IGEEAR 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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