AutismKB 2.0

Annotation Detail for GCN1L1


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Basic Information Top
Gene Symbol:GCN1L1 ( GCN1,GCN1L,KIAA0219,PRIC295 )
Gene Full Name: GCN1 general control of amino-acid synthesis 1-like 1 (yeast)
Band: 12q24.2
Quick LinksEntrez ID:10985; OMIM: 605614; Uniprot ID:GCN1L_HUMAN; ENSEMBL ID: ENSG00000089154; HGNC ID:
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 body7 / 7076198
blastocyst11 / 62319176
fetus32 / 56401256
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult152 / 193912178
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor18 / 94178191
cervical tumor8 / 34366232
chondrosarcoma8 / 8282396
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor22 / 26384583
glioma7 / 10688365
head and neck tumor11 / 13630280
kidney tumor13 / 68959188
leukemia5 / 9584252
liver tumor9 / 9635993
lung tumor10 / 10312796
lymphoma4 / 7175555
non-neoplasia0 / 972500 
normal146 / 336030743
ovarian tumor7 / 7668291
pancreatic tumor17 / 104616162
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer14 / 102680136
retinoblastoma2 / 4635643
skin tumor34 / 124949272
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites6 / 40015149
bladder4 / 29757134
blood4 / 12347832
bone8 / 71655111
bone marrow1 / 4880120
brain21 / 110098919
cervix8 / 48171166
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue22 / 215722101
esophagus0 / 202090 
eye15 / 21105471
heart5 / 8962655
intestine21 / 23447289
kidney15 / 21177770
larynx4 / 24145165
liver12 / 20774357
lung14 / 33697441
lymph4 / 4427090
lymph node14 / 91610152
mammary gland24 / 153271156
mouth4 / 6705259
muscle6 / 10771555
nerve1 / 1576863
ovary12 / 102051117
pancreas18 / 21481283
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta17 / 28082560
prostate18 / 18934595
salivary gland1 / 2015549
skin35 / 210574166
spleen2 / 5395237
stomach5 / 9661951
testis3 / 3304429
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus22 / 23287894
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216232_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts174.05
Adipocyte20
AdrenalCortex21.35
Adrenalgland12.7
Amygdala14.85
Appendix17.25
AtrioventricularNode18.85
BDCA4+_DentriticCells91.65
Bonemarrow19.95
BronchialEpithelialCells17.9
CD105+_Endothelial37.25
CD14+_Monocytes21.65
CD19+_BCells(neg._sel.)29.35
CD33+_Myeloid21.55
CD34+48.95
CD4+_Tcells69.2
CD56+_NKCells29.55
CD71+_EarlyErythroid27.3
CD8+_Tcells114.15
CardiacMyocytes24.8
Caudatenucleus19.6
Cerebellum14.1
CerebellumPeduncles25.05
CiliaryGanglion13.9
CingulateCortex18.25
Colorectaladenocarcinoma31.05
DorsalRootGanglion15.7
FetalThyroid19
Fetalbrain19.35
Fetalliver14.4
Fetallung11.6
GlobusPallidus21.3
Heart25.4
Hypothalamus17.25
Kidney15.95
Leukemia_chronicMyelogenousK-56237.8
Leukemia_promyelocytic-HL-6025.6
Leukemialymphoblastic(MOLT-4)18
Liver27
Lung18.7
Lymphnode17.2
Lymphoma_burkitts(Daudi)53.45
Lymphoma_burkitts(Raji)31.1
MedullaOblongata15.55
OccipitalLobe16.8
OlfactoryBulb14.4
Ovary17.1
Pancreas13.45
PancreaticIslet19.35
ParietalLobe19.8
Pituitary25.75
Placenta28.05
Pons17.5
PrefrontalCortex24.1
Prostate25.5
Salivarygland20.55
SkeletalMuscle28.7
Skin15.75
SmoothMuscle28.25
Spinalcord17.2
SubthalamicNucleus17.2
SuperiorCervicalGanglion21.35
TemporalLobe17
Testis15.95
TestisGermCell17.15
TestisIntersitial15.4
TestisLeydigCell18.75
TestisSeminiferousTubule17.35
Thalamus18.15
Thymus18
Thyroid21.4
Tongue18.25
Tonsil19.7
Trachea16.95
TrigeminalGanglion19.15
Uterus15.5
UterusCorpus18.5
WholeBlood16.8
Wholebrain14.45
colon20.8
pineal_day34.74
pineal_night27.26
retina36.275
small_intestine25.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7305_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
Amygdala5.33 ± 0.4
Basal Forebrain5.61 ± 0.26
Basal Part of Pons5.61 ± 0.3
Cerebellar Cortex5.83 ± 0.26
Cerebellar Nuclei5.48 ± 0.35
Claustrum5.49 ± 0.44
Epithalamus5.54 ± 0.45
Frontal Lobe5.48 ± 0.29
Globus Pallidus5.52 ± 0.2
Hypothalamus5.48 ± 0.25
Insula5.62 ± 0.19
Limbic Lobe5.56 ± 0.31
Mesencephalon5.48 ± 0.43
Myelencephalon5.57 ± 0.29
Occipital Lobe5.78 ± 0.31
Parietal Lobe5.5 ± 0.29
Pontine Tegmentum5.57 ± 0.3
Striatum5.26 ± 0.26
Subthalamus5.2 ± 0.48
Temporal Lobe5.62 ± 0.32
Thalamus5.69 ± 0.26
White Matter6.27 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gcn1l1CBCerebellum100
100
Gcn1l1CTXCerebral cortex100
100
Gcn1l1HIPHippocampal region100
100
Gcn1l1HPFHippocampal formation100
100
Gcn1l1HYHypothalamus100
100
Gcn1l1LSXLateral septal complex100
100
Gcn1l1MBMidbrain100
100
Gcn1l1MYMedulla100
100
Gcn1l1OLFOlfactory bulb100
100
Gcn1l1PPons100
100
Gcn1l1PALPallidum100
100
Gcn1l1RHPRetrohippocampal region100
100
Gcn1l1sAMYStriatum-like amygdalar nuclei100
100
Gcn1l1STRStriatum100
100
Gcn1l1STRdStriatum dorsal region100
100
Gcn1l1STRvStriatum ventral region100
100
Gcn1l1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GCN1L_HUMAN_1 12 1 12 AADTQVSETLKR PRIDE
GCN1L_HUMAN_1176 13 1176 1188 QAGAEALSQAVAR PRIDE
GCN1L_HUMAN_1380 14 1380 1393 LMQQLLESDKYAER PRIDE
GCN1L_HUMAN_1484 12 1484 1495 AVMSNLSAHGVK PRIDE
GCN1L_HUMAN_2 12 2 13 AADTQVSETLKR PRIDE
GCN1L_HUMAN_2107 14 2107 2120 HLGVILPAVMLALK PRIDE
GCN1L_HUMAN_2150 11 2150 2160 IIIEDLLEATR PRIDE
GCN1L_HUMAN_2651 21 2651 2671 SLKKLASQADSTEQVDDTILT PRIDE
GCN1L_HUMAN_313 10 313 322 LMDEAVLALR PRIDE
GCN1L_HUMAN_616 19 616 634 VLPLEALVTDAGEVTEAGK PRIDE
GCN1L_HUMAN_712 25 712 736 MTTQSPLNQSSMNAMGSLSVLSPDR PRIDE
GCN1L_HUMAN_829 11 829 839 QKEMLQAQLDR PRIDE
PAp00000503 10 2013 2022 ALCDPLEEVR 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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