AutismKB 2.0

Annotation Detail for GIPC1


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Basic Information Top
Gene Symbol:GIPC1 ( C19orf3,GIPC,GLUT1CBP,Hs.6454,IIP-1,MGC15889,MGC3774,NIP,RGS19IP1,SEMCAP,SYNECTIIN,SYNECTIN,TIP-2 )
Gene Full Name: GIPC PDZ domain containing family, member 1
Band: 19p13.12
Quick LinksEntrez ID:10755; OMIM: 605072; Uniprot ID:GIPC1_HUMAN; ENSEMBL ID: ENSG00000123159; HGNC ID: 1226
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 body9 / 70761127
blastocyst8 / 62319128
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult154 / 193912179
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma5 / 17475286
breast (mammary gland) tumor15 / 94178159
cervical tumor4 / 34366116
chondrosarcoma5 / 8282360
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor14 / 26384553
glioma16 / 106883149
head and neck tumor3 / 13630222
kidney tumor11 / 68959159
leukemia5 / 9584252
liver tumor9 / 9635993
lung tumor15 / 103127145
lymphoma3 / 7175541
non-neoplasia12 / 97250123
normal180 / 336030753
ovarian tumor10 / 76682130
pancreatic tumor31 / 104616296
primitive neuroectodermal tumor of the CNS27 / 125680214
prostate cancer26 / 102680253
retinoblastoma4 / 4635686
skin tumor49 / 124949392
soft tissue/muscle tissue tumor34 / 125191271
uterine tumor18 / 90257199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites4 / 4001599
bladder4 / 29757134
blood3 / 12347824
bone6 / 7165583
bone marrow2 / 4880140
brain56 / 110098950
cervix9 / 48171186
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue27 / 215722125
esophagus0 / 202090 
eye33 / 211054156
heart4 / 8962644
intestine26 / 234472110
kidney19 / 21177789
larynx0 / 241450 
liver12 / 20774357
lung29 / 33697486
lymph3 / 4427067
lymph node0 / 916100 
mammary gland19 / 153271123
mouth0 / 670520 
muscle17 / 107715157
nerve0 / 157680 
ovary12 / 102051117
pancreas40 / 214812186
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta25 / 28082589
prostate27 / 189345142
salivary gland3 / 20155148
skin51 / 210574242
spleen4 / 5395274
stomach8 / 9661982
testis8 / 33044224
thymus2 / 8113124
thyroid0 / 474730 
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus36 / 232878154
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207525_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts94
Adipocyte205.55
AdrenalCortex192.45
Adrenalgland168.4
Amygdala224.2
Appendix134.7
AtrioventricularNode139.2
BDCA4+_DentriticCells125.3
Bonemarrow175.7
BronchialEpithelialCells224.25
CD105+_Endothelial90.6
CD14+_Monocytes110.3
CD19+_BCells(neg._sel.)111.95
CD33+_Myeloid79.2
CD34+123.75
CD4+_Tcells213.5
CD56+_NKCells165.7
CD71+_EarlyErythroid124.45
CD8+_Tcells165.8
CardiacMyocytes168.85
Caudatenucleus255.75
Cerebellum218
CerebellumPeduncles265.55
CiliaryGanglion148.5
CingulateCortex294.05
Colorectaladenocarcinoma185.1
DorsalRootGanglion141.75
FetalThyroid183.2
Fetalbrain184
Fetalliver142.85
Fetallung162.15
GlobusPallidus252.8
Heart262.35
Hypothalamus241.8
Kidney172.5
Leukemia_chronicMyelogenousK-562206.1
Leukemia_promyelocytic-HL-6098.85
Leukemialymphoblastic(MOLT-4)137.05
Liver231.4
Lung213.1
Lymphnode125.75
Lymphoma_burkitts(Daudi)211.85
Lymphoma_burkitts(Raji)177.75
MedullaOblongata220.5
OccipitalLobe228
OlfactoryBulb143.2
Ovary107.1
Pancreas124.75
PancreaticIslet179.75
ParietalLobe214.5
Pituitary255.7
Placenta221.2
Pons187.1
PrefrontalCortex277.3
Prostate185.95
Salivarygland163.45
SkeletalMuscle247.4
Skin159.95
SmoothMuscle311
Spinalcord358.4
SubthalamicNucleus256.45
SuperiorCervicalGanglion246.15
TemporalLobe251.8
Testis166.4
TestisGermCell115.8
TestisIntersitial110.65
TestisLeydigCell177.6
TestisSeminiferousTubule158.25
Thalamus308.15
Thymus121.5
Thyroid334
Tongue263.05
Tonsil183.4
Trachea161.05
TrigeminalGanglion233.25
Uterus127.15
UterusCorpus157.75
WholeBlood59.45
Wholebrain184.15
colon276.65
pineal_day560.38
pineal_night555.22
retina251.175
small_intestine166.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14936_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
Amygdala6.51 ± 0.33
Basal Forebrain6.7 ± 0.43
Basal Part of Pons6.87 ± 0.28
Cerebellar Cortex6.34 ± 0.36
Cerebellar Nuclei6.85 ± 0.24
Claustrum6.95 ± 0.46
Epithalamus5.83 ± 0.48
Frontal Lobe6.51 ± 0.36
Globus Pallidus7.19 ± 0.23
Hypothalamus6.17 ± 0.25
Insula6.35 ± 0.42
Limbic Lobe6.43 ± 0.35
Mesencephalon6.57 ± 0.37
Myelencephalon6.59 ± 0.43
Occipital Lobe6.51 ± 0.31
Parietal Lobe6.57 ± 0.34
Pontine Tegmentum6.45 ± 0.34
Striatum6.85 ± 0.45
Subthalamus6.83 ± 0.24
Temporal Lobe6.49 ± 0.32
Thalamus6.72 ± 0.31
White Matter7.41 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gipc1CBCerebellum17.24
25.77
Gipc1CTXCerebral cortex73.49
70.39
Gipc1HIPHippocampal region30.29
49.28
Gipc1HPFHippocampal formation39.84
56.01
Gipc1HYHypothalamus11.67
11.2
Gipc1LSXLateral septal complex26.95
25.23
Gipc1MBMidbrain15.58
17.26
Gipc1MYMedulla23.6
29.12
Gipc1OLFOlfactory bulb62.82
61.95
Gipc1PPons18.46
20.6
Gipc1PALPallidum22.85
24.59
Gipc1RHPRetrohippocampal region51.54
57.83
Gipc1sAMYStriatum-like amygdalar nuclei27.65
26.23
Gipc1STRStriatum35.13
30.92
Gipc1STRdStriatum dorsal region38.41
33.88
Gipc1STRvStriatum ventral region33.48
27.2
Gipc1THThalamus34.5
34.88
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GIPC1_HUMAN_216 9 216 224 KAFDMISQR PRIDE
GIPC1_HUMAN_217 8 217 224 AFDMISQR PRIDE
GIPC1_HUMAN_230 11 230 240 PGSGPQLGTGR PRIDE
GIPC1_HUMAN_268 12 268 279 VDDLLESYMGIR PRIDE
PAp00068655 15 249 263 GPATVEDLPSAFEEK 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


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