AutismKB 2.0

Annotation Detail for GUCY2D


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Basic Information Top
Gene Symbol:GUCY2D ( CORD5,CORD6,CYGD,GUC1A4,GUC2D,LCA,LCA1,RCD2,RETGC-1,ROS-GC1,ROSGC,retGC )
Gene Full Name: guanylate cyclase 2D, membrane (retina-specific)
Band: 17p13.1
Quick LinksEntrez ID:3000; OMIM: 600179; Uniprot ID:GUC2D_HUMAN; ENSEMBL ID: ENSG00000132518; HGNC ID: 4689
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult2 / 19391211
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
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-neoplasia0 / 972500 
normal9 / 33603072
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 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
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: 207884_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.4
Adipocyte3.45
AdrenalCortex3.65
Adrenalgland2.9
Amygdala3.7
Appendix3.5
AtrioventricularNode2.65
BDCA4+_DentriticCells6.1
Bonemarrow3.4
BronchialEpithelialCells3.45
CD105+_Endothelial3.55
CD14+_Monocytes3.75
CD19+_BCells(neg._sel.)3.75
CD33+_Myeloid4.5
CD34+4.45
CD4+_Tcells3.8
CD56+_NKCells4.2
CD71+_EarlyErythroid3.25
CD8+_Tcells3.4
CardiacMyocytes4.4
Caudatenucleus3.15
Cerebellum2.8
CerebellumPeduncles3.95
CiliaryGanglion2.45
CingulateCortex3.6
Colorectaladenocarcinoma3.5
DorsalRootGanglion2.65
FetalThyroid3.4
Fetalbrain3.5
Fetalliver3.05
Fetallung2.95
GlobusPallidus2.6
Heart4.45
Hypothalamus3.8
Kidney2.85
Leukemia_chronicMyelogenousK-5623.15
Leukemia_promyelocytic-HL-603.1
Leukemialymphoblastic(MOLT-4)2.8
Liver4.55
Lung3.85
Lymphnode3
Lymphoma_burkitts(Daudi)4.45
Lymphoma_burkitts(Raji)4.9
MedullaOblongata3.25
OccipitalLobe3.15
OlfactoryBulb2.75
Ovary2.3
Pancreas2.8
PancreaticIslet3.7
ParietalLobe3.65
Pituitary4.1
Placenta3.6
Pons3.3
PrefrontalCortex4.4
Prostate4.15
Salivarygland2.8
SkeletalMuscle4.05
Skin2.65
SmoothMuscle4
Spinalcord3.75
SubthalamicNucleus3.2
SuperiorCervicalGanglion3.9
TemporalLobe3.2
Testis3
TestisGermCell2.95
TestisIntersitial2.95
TestisLeydigCell3.45
TestisSeminiferousTubule3
Thalamus3.55
Thymus2.8
Thyroid4.4
Tongue3.45
Tonsil3.4
Trachea2.9
TrigeminalGanglion3.45
Uterus2.9
UterusCorpus3.15
WholeBlood3.85
Wholebrain2.95
colon3.5
pineal_day4.42
pineal_night4.32
retina4.25
small_intestine3.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P130259
  • 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
Amygdala2 ± 1
Basal Forebrain1.65 ± 0.25
Basal Part of Pons1.3 ± 0.35
Cerebellar Cortex1.41 ± 0.7
Cerebellar Nuclei1.9 ± 0.65
Claustrum2.5 ± 0.87
Epithalamus1.31 ± 0.75
Frontal Lobe1.47 ± 0.63
Globus Pallidus2.31 ± 0.48
Hypothalamus1.71 ± 0.71
Insula1.48 ± 0.49
Limbic Lobe1.61 ± 0.6
Mesencephalon1.78 ± 0.73
Myelencephalon1.63 ± 0.67
Occipital Lobe1.68 ± 0.63
Parietal Lobe1.61 ± 0.63
Pontine Tegmentum1.68 ± 0.68
Striatum1.78 ± 0.51
Subthalamus1.85 ± 0.33
Temporal Lobe1.49 ± 0.6
Thalamus1.56 ± 0.55
White Matter2.17 ± 0.37
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GUC2D_HUMAN_107 14 107 120 TPGSLGAVSSALAR PRIDE
GUC2D_HUMAN_184 16 184 199 VALVTAPQDLWVEAGR PRIDE
GUC2D_HUMAN_209 19 209 227 GLPVASVTSMEPLDLSGAR PRIDE
GUC2D_HUMAN_372 9 372 380 WVSGAAVAR PRIDE
GUC2D_HUMAN_414 11 414 424 LFATYMLDPAR PRIDE
GUC2D_HUMAN_425 9 425 433 GSFLSAGTR PRIDE
GUC2D_HUMAN_491 12 491 502 LLHMQMVSGPNK PRIDE
GUC2D_HUMAN_625 10 625 634 GSLQDLLAQR PRIDE
GUC2D_HUMAN_8 21 8 28 AGGLPDPGLCGPAWWAPSLPR PRIDE
GUC2D_HUMAN_814 9 814 822 TNIIDSMLR PRIDE
GUC2D_HUMAN_967 8 967 974 HMPEVPVR 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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