AutismKB 2.0

Annotation Detail for AHCTF1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AHCTF1 ( DKFZp434N093,ELYS,MST108,TMBS62 )
Gene Full Name: AT hook containing transcription factor 1
Band: 1q44
Quick LinksEntrez ID:25909; OMIM: 610853; Uniprot ID:ELYS_HUMAN; ENSEMBL ID: ENSG00000153207; HGNC ID: 24618
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 body1 / 7076114
blastocyst3 / 6231948
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult114 / 193912158
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor11 / 94178116
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor5 / 11936941
germ cell tumor14 / 26384553
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal116 / 336030734
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer14 / 102680136
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone7 / 7165597
bone marrow6 / 48801122
brain25 / 110098922
cervix0 / 481710 
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus2 / 2020998
eye10 / 21105447
heart1 / 8962611
intestine3 / 23447212
kidney4 / 21177718
larynx0 / 241450 
liver4 / 20774319
lung8 / 33697423
lymph1 / 4427022
lymph node8 / 9161087
mammary gland17 / 153271110
mouth4 / 6705259
muscle5 / 10771546
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate24 / 189345126
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach3 / 9661931
testis22 / 33044266
thymus4 / 8113149
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus18 / 23287877
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214766_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts42.8
Adipocyte23.8
AdrenalCortex35.75
Adrenalgland22
Amygdala23.8
Appendix37.6
AtrioventricularNode28.65
BDCA4+_DentriticCells22.2
Bonemarrow28.6
BronchialEpithelialCells26.3
CD105+_Endothelial32.35
CD14+_Monocytes27.85
CD19+_BCells(neg._sel.)28.55
CD33+_Myeloid30.2
CD34+43.1
CD4+_Tcells37.95
CD56+_NKCells32.8
CD71+_EarlyErythroid26
CD8+_Tcells35.25
CardiacMyocytes39.4
Caudatenucleus30.15
Cerebellum20.35
CerebellumPeduncles32.25
CiliaryGanglion34.85
CingulateCortex26.85
Colorectaladenocarcinoma26.85
DorsalRootGanglion33.15
FetalThyroid25.05
Fetalbrain25.7
Fetalliver23.05
Fetallung16.4
GlobusPallidus19.7
Heart45.5
Hypothalamus21
Kidney24.3
Leukemia_chronicMyelogenousK-56224.45
Leukemia_promyelocytic-HL-6024.9
Leukemialymphoblastic(MOLT-4)22.1
Liver37.3
Lung19.15
Lymphnode24.3
Lymphoma_burkitts(Daudi)35
Lymphoma_burkitts(Raji)58.05
MedullaOblongata20.35
OccipitalLobe19.4
OlfactoryBulb18.2
Ovary18.85
Pancreas22.4
PancreaticIslet28.45
ParietalLobe28.55
Pituitary29.95
Placenta17.75
Pons25.8
PrefrontalCortex28.65
Prostate18.95
Salivarygland22.05
SkeletalMuscle38.9
Skin32.45
SmoothMuscle25.35
Spinalcord24
SubthalamicNucleus25.45
SuperiorCervicalGanglion45.25
TemporalLobe24.35
Testis29.4
TestisGermCell60.95
TestisIntersitial104.35
TestisLeydigCell56.7
TestisSeminiferousTubule47.5
Thalamus26.75
Thymus16.1
Thyroid30.5
Tongue27.45
Tonsil25.3
Trachea21.7
TrigeminalGanglion41.4
Uterus29
UterusCorpus26.35
WholeBlood63.9
Wholebrain14.5
colon22.45
pineal_day34.64
pineal_night34.62
retina24.5
small_intestine21.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P28657
  • 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
Amygdala6.04 ± 0.53
Basal Forebrain6.19 ± 0.11
Basal Part of Pons5.82 ± 0.3
Cerebellar Cortex6.54 ± 0.23
Cerebellar Nuclei5.6 ± 0.51
Claustrum5.67 ± 0.57
Epithalamus6.42 ± 0.47
Frontal Lobe6.15 ± 0.4
Globus Pallidus5.58 ± 0.26
Hypothalamus6.24 ± 0.27
Insula6.18 ± 0.29
Limbic Lobe6.05 ± 0.44
Mesencephalon6.14 ± 0.49
Myelencephalon6.08 ± 0.48
Occipital Lobe6.16 ± 0.35
Parietal Lobe6.15 ± 0.47
Pontine Tegmentum6.1 ± 0.39
Striatum6.22 ± 0.42
Subthalamus5.84 ± 0.63
Temporal Lobe6.11 ± 0.37
Thalamus6.06 ± 0.37
White Matter5.51 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ahctf1CBCerebellum0.94
1.5
Ahctf1CTXCerebral cortex0.79
0.46
Ahctf1HIPHippocampal region0.49
0.52
Ahctf1HPFHippocampal formation0.44
0.44
Ahctf1HYHypothalamus0.19
0.23
Ahctf1LSXLateral septal complex0.46
0.42
Ahctf1MBMidbrain0.55
0.51
Ahctf1MYMedulla0.57
0.53
Ahctf1OLFOlfactory bulb0.47
0.42
Ahctf1PPons0.25
0.21
Ahctf1PALPallidum0.15
0.07
Ahctf1RHPRetrohippocampal region0.36
0.29
Ahctf1sAMYStriatum-like amygdalar nuclei0.17
0.14
Ahctf1STRStriatum0.2
0.17
Ahctf1STRdStriatum dorsal region0.15
0.12
Ahctf1STRvStriatum ventral region0.25
0.24
Ahctf1THThalamus0.22
0.4
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00027787 29 1690 1718 SKEITSDTMEQSIHETIPLVSQNIMCPTK 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