AutismKB 2.0

Annotation Detail for REG1A


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Basic Information Top
Gene Symbol:REG1A ( ICRF,MGC12447,P19,PSP,PSPS,PSPS1,PTP,REG )
Gene Full Name: regenerating islet-derived 1 alpha
Band: 2p12
Quick LinksEntrez ID:5967; OMIM: 167770; Uniprot ID:REG1A_HUMAN; ENSEMBL ID: ENSG00000115386; HGNC ID: 9951
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 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult198 / 1939121102
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor28 / 114246245
esophageal tumor0 / 172900 
gastrointestinal tumor13 / 119369108
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal1416 / 3360307421
ovarian tumor3 / 7668239
pancreatic tumor66 / 104616630
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 
bladder39 / 297571310
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine95 / 234472405
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas1421 / 2148126615
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach108 / 966191117
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
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: 209752_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.3
Adipocyte6.25
AdrenalCortex7.2
Adrenalgland5.65
Amygdala6.5
Appendix7.3
AtrioventricularNode5.3
BDCA4+_DentriticCells6.25
Bonemarrow9.1
BronchialEpithelialCells6.2
CD105+_Endothelial6.25
CD14+_Monocytes6.7
CD19+_BCells(neg._sel.)6.7
CD33+_Myeloid7.8
CD34+7.7
CD4+_Tcells6.7
CD56+_NKCells7.4
CD71+_EarlyErythroid6.05
CD8+_Tcells5.65
CardiacMyocytes8.25
Caudatenucleus5.65
Cerebellum5.25
CerebellumPeduncles7.85
CiliaryGanglion5.05
CingulateCortex6.45
Colorectaladenocarcinoma7
DorsalRootGanglion5.5
FetalThyroid7.25
Fetalbrain6.25
Fetalliver19.7
Fetallung5.1
GlobusPallidus4.85
Heart17.6
Hypothalamus6.75
Kidney5.6
Leukemia_chronicMyelogenousK-5625.85
Leukemia_promyelocytic-HL-605.6
Leukemialymphoblastic(MOLT-4)5.1
Liver10.05
Lung7
Lymphnode5.5
Lymphoma_burkitts(Daudi)8.4
Lymphoma_burkitts(Raji)10.1
MedullaOblongata5.75
OccipitalLobe5.7
OlfactoryBulb5.1
Ovary4.6
Pancreas19751
PancreaticIslet29201.8
ParietalLobe6.85
Pituitary7.45
Placenta6.45
Pons6.25
PrefrontalCortex7.8
Prostate7.4
Salivarygland5.2
SkeletalMuscle10.7
Skin5.4
SmoothMuscle7.25
Spinalcord6.8
SubthalamicNucleus5.9
SuperiorCervicalGanglion8.75
TemporalLobe5.95
Testis5.4
TestisGermCell5.15
TestisIntersitial6.1
TestisLeydigCell6.3
TestisSeminiferousTubule5.45
Thalamus6.5
Thymus4.9
Thyroid7.85
Tongue6.75
Tonsil6.25
Trachea5.3
TrigeminalGanglion7.4
Uterus5.1
UterusCorpus6.2
WholeBlood6.9
Wholebrain5.35
colon897.45
pineal_day7.64
pineal_night7.62
retina7.7
small_intestine16407.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12459_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
Amygdala1.94 ± 1.03
Basal Forebrain1.46 ± 0.18
Basal Part of Pons1.29 ± 0.45
Cerebellar Cortex1.26 ± 0.66
Cerebellar Nuclei1.76 ± 0.74
Claustrum2.38 ± 0.82
Epithalamus1.15 ± 0.71
Frontal Lobe1.3 ± 0.6
Globus Pallidus2.19 ± 0.49
Hypothalamus1.6 ± 0.74
Insula1.32 ± 0.58
Limbic Lobe1.54 ± 0.74
Mesencephalon1.63 ± 0.72
Myelencephalon1.55 ± 0.71
Occipital Lobe1.59 ± 0.74
Parietal Lobe1.55 ± 0.94
Pontine Tegmentum1.45 ± 0.65
Striatum1.56 ± 0.54
Subthalamus1.6 ± 0.59
Temporal Lobe1.38 ± 0.57
Thalamus1.42 ± 0.6
White Matter1.89 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Reg1CBCerebellum0.31
0.67
Reg1CTXCerebral cortex1.21
1.37
Reg1HIPHippocampal region0.34
0.61
Reg1HPFHippocampal formation0.26
0.44
Reg1HYHypothalamus0.25
0.22
Reg1LSXLateral septal complex0.11
0.09
Reg1MBMidbrain0.39
0.66
Reg1MYMedulla0.18
0.33
Reg1OLFOlfactory bulb0.78
1.79
Reg1PPons0.81
1.2
Reg1PALPallidum0.01
0
Reg1RHPRetrohippocampal region0.1
0.15
Reg1sAMYStriatum-like amygdalar nuclei0.12
0.17
Reg1STRStriatum0.09
0.23
Reg1STRdStriatum dorsal region0.12
0.36
Reg1STRvStriatum ventral region0.02
0.01
Reg1THThalamus0.23
0.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00375744 12 111 122 WHWSSGSLVSYK Peptide Atlas

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