AutismKB 2.0

Annotation Detail for GPHN


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Basic Information Top
Gene Symbol:GPHN ( GEPH,GPH,GPHRYN,KIAA1385 )
Gene Full Name: gephyrin
Band: 14q23.3
Quick LinksEntrez ID:10243; OMIM: 603930; Uniprot ID:GEPH_HUMAN; ENSEMBL ID: ENSG00000171723; HGNC ID: 15465
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 body5 / 7076170
blastocyst1 / 6231916
fetus51 / 56401290
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult81 / 193912141
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor16 / 26384560
glioma3 / 10688328
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal187 / 336030755
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood2 / 12347816
bone4 / 7165555
bone marrow0 / 488010 
brain98 / 110098989
cervix0 / 481710 
connective tissue12 / 14925580
ear1 / 1621261
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye9 / 21105442
heart1 / 8962611
intestine8 / 23447234
kidney14 / 21177766
larynx1 / 2414541
liver1 / 2077434
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth7 / 67052104
muscle7 / 10771564
nerve1 / 1576863
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate7 / 18934536
salivary gland0 / 201550 
skin5 / 21057423
spleen2 / 5395237
stomach2 / 9661920
testis21 / 33044263
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea10 / 52413190
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220773_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts59.8
Adipocyte7.85
AdrenalCortex8.2
Adrenalgland6.7
Amygdala12.6
Appendix9.25
AtrioventricularNode6.6
BDCA4+_DentriticCells7.8
Bonemarrow7.75
BronchialEpithelialCells7.65
CD105+_Endothelial7.15
CD14+_Monocytes7.7
CD19+_BCells(neg._sel.)7.45
CD33+_Myeloid9.25
CD34+9.9
CD4+_Tcells7.5
CD56+_NKCells8.6
CD71+_EarlyErythroid7.05
CD8+_Tcells6.45
CardiacMyocytes10.05
Caudatenucleus10.55
Cerebellum15.1
CerebellumPeduncles13.4
CiliaryGanglion5.7
CingulateCortex15
Colorectaladenocarcinoma7.45
DorsalRootGanglion6.05
FetalThyroid7.65
Fetalbrain26.05
Fetalliver14.1
Fetallung6.05
GlobusPallidus7.1
Heart10.25
Hypothalamus11.85
Kidney7.45
Leukemia_chronicMyelogenousK-5627.3
Leukemia_promyelocytic-HL-606.8
Leukemialymphoblastic(MOLT-4)6.55
Liver10.85
Lung7.85
Lymphnode6.3
Lymphoma_burkitts(Daudi)9.6
Lymphoma_burkitts(Raji)10.95
MedullaOblongata10.6
OccipitalLobe21.15
OlfactoryBulb6.1
Ovary5.25
Pancreas6.25
PancreaticIslet8.2
ParietalLobe10
Pituitary8.95
Placenta7.4
Pons7.65
PrefrontalCortex21.05
Prostate8.3
Salivarygland6.35
SkeletalMuscle10.05
Skin5.95
SmoothMuscle8.8
Spinalcord8.1
SubthalamicNucleus21.45
SuperiorCervicalGanglion9.4
TemporalLobe11.95
Testis6.35
TestisGermCell6.8
TestisIntersitial6.4
TestisLeydigCell7.6
TestisSeminiferousTubule6.65
Thalamus8.6
Thymus5.7
Thyroid8.6
Tongue8
Tonsil8.9
Trachea6.5
TrigeminalGanglion7.85
Uterus6.1
UterusCorpus7.05
WholeBlood8.1
Wholebrain11.35
colon8.45
pineal_day12.28
pineal_night11.06
retina9.375
small_intestine7.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5089_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
Amygdala8.56 ± 0.18
Basal Forebrain8.61 ± 0.09
Basal Part of Pons8.11 ± 0.2
Cerebellar Cortex8.62 ± 0.14
Cerebellar Nuclei7.96 ± 0.2
Claustrum8.39 ± 0.33
Epithalamus7.98 ± 0.2
Frontal Lobe8.19 ± 0.22
Globus Pallidus7.88 ± 0.22
Hypothalamus8.32 ± 0.35
Insula8.31 ± 0.26
Limbic Lobe8.45 ± 0.29
Mesencephalon8.38 ± 0.3
Myelencephalon8.32 ± 0.29
Occipital Lobe8.75 ± 0.27
Parietal Lobe8.39 ± 0.22
Pontine Tegmentum8.4 ± 0.25
Striatum8.74 ± 0.33
Subthalamus8.27 ± 0.15
Temporal Lobe8.36 ± 0.23
Thalamus8.32 ± 0.19
White Matter8.66 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GphnCBCerebellum10.91
11.42
GphnCTXCerebral cortex4.27
2.66
GphnHIPHippocampal region38.99
21.72
GphnHPFHippocampal formation25.98
13.96
GphnHYHypothalamus2.75
1.79
GphnLSXLateral septal complex6.47
5.65
GphnMBMidbrain5.16
4.26
GphnMYMedulla9.01
8.94
GphnOLFOlfactory bulb20.84
13.9
GphnPPons8.65
8.84
GphnPALPallidum6.82
5.26
GphnRHPRetrohippocampal region7.37
4.64
GphnsAMYStriatum-like amygdalar nuclei6.15
3.51
GphnSTRStriatum6.57
3.84
GphnSTRdStriatum dorsal region3.8
2.13
GphnSTRvStriatum ventral region16.96
8.67
GphnTHThalamus4.26
2.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GEPH_HUMAN_2 15 2 16 ATEGMILTNHDHQIR PRIDE
GEPH_HUMAN_388 23 388 410 FIIGESQAGEQPTQTVMPGQVMR PRIDE
PAp00068933 21 150 170 GSQECFQFILPALPHAIDLLR 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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