AutismKB 2.0

Annotation Detail for TTLL12


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Basic Information Top
Gene Symbol:TTLL12 ( FLJ41795,KIAA0153,dJ526I14.2 )
Gene Full Name: tubulin tyrosine ligase-like family, member 12
Band: 22q13.2
Quick LinksEntrez ID:23170; OMIM: NA; Uniprot ID:TTL12_HUMAN; ENSEMBL ID: ENSG00000100304; HGNC ID: 28974
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
blastocyst4 / 6231964
fetus25 / 56401244
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult82 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor19 / 26384572
glioma11 / 106883102
head and neck tumor4 / 13630229
kidney tumor6 / 6895987
leukemia15 / 95842156
liver tumor4 / 9635941
lung tumor5 / 10312748
lymphoma13 / 71755181
non-neoplasia3 / 9725030
normal107 / 336030731
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS50 / 125680397
prostate cancer7 / 10268068
retinoblastoma3 / 4635664
skin tumor10 / 12494980
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites6 / 40015149
bladder0 / 297570 
blood17 / 123478137
bone4 / 7165555
bone marrow0 / 488010 
brain26 / 110098923
cervix6 / 48171124
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus2 / 2020998
eye11 / 21105452
heart1 / 8962611
intestine18 / 23447276
kidney10 / 21177747
larynx2 / 2414582
liver13 / 20774362
lung18 / 33697453
lymph10 / 44270225
lymph node1 / 9161010
mammary gland6 / 15327139
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta19 / 28082567
prostate12 / 18934563
salivary gland0 / 201550 
skin13 / 21057461
spleen1 / 5395218
stomach4 / 9661941
testis11 / 33044233
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus19 / 23287881
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216251_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts47.7
Adipocyte5.65
AdrenalCortex6
Adrenalgland10.1
Amygdala6.05
Appendix5.7
AtrioventricularNode4.2
BDCA4+_DentriticCells10.5
Bonemarrow6.85
BronchialEpithelialCells9.95
CD105+_Endothelial105.45
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)6.15
CD33+_Myeloid7.3
CD34+58.65
CD4+_Tcells6.25
CD56+_NKCells7.05
CD71+_EarlyErythroid78
CD8+_Tcells4.85
CardiacMyocytes6.95
Caudatenucleus5.1
Cerebellum5.8
CerebellumPeduncles6.35
CiliaryGanglion3.85
CingulateCortex5.8
Colorectaladenocarcinoma6.6
DorsalRootGanglion4.15
FetalThyroid5.6
Fetalbrain6.4
Fetalliver5.95
Fetallung4.8
GlobusPallidus4.1
Heart8.05
Hypothalamus6.3
Kidney4.55
Leukemia_chronicMyelogenousK-56217.8
Leukemia_promyelocytic-HL-6025.1
Leukemialymphoblastic(MOLT-4)11.7
Liver14.45
Lung6.25
Lymphnode4.65
Lymphoma_burkitts(Daudi)20.2
Lymphoma_burkitts(Raji)18.1
MedullaOblongata5.25
OccipitalLobe5.15
OlfactoryBulb4.3
Ovary3.65
Pancreas4.4
PancreaticIslet5.85
ParietalLobe5.85
Pituitary6.65
Placenta5.2
Pons5.4
PrefrontalCortex7.25
Prostate11.5
Salivarygland4.5
SkeletalMuscle6.15
Skin4.15
SmoothMuscle6.3
Spinalcord6
SubthalamicNucleus5.05
SuperiorCervicalGanglion6.2
TemporalLobe5.1
Testis14.25
TestisGermCell11.8
TestisIntersitial4.7
TestisLeydigCell5.5
TestisSeminiferousTubule6.05
Thalamus5.55
Thymus4.9
Thyroid7.15
Tongue11
Tonsil5.55
Trachea6
TrigeminalGanglion5.4
Uterus4.7
UterusCorpus4.95
WholeBlood6.05
Wholebrain6.25
colon5.75
pineal_day6.24
pineal_night5.84
retina6.75
small_intestine5.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6235_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
Amygdala2.97 ± 0.87
Basal Forebrain2.2 ± 0.29
Basal Part of Pons2.46 ± 0.34
Cerebellar Cortex2.4 ± 0.71
Cerebellar Nuclei2.71 ± 0.66
Claustrum2.88 ± 0.67
Epithalamus2.25 ± 0.77
Frontal Lobe2.57 ± 0.65
Globus Pallidus2.54 ± 0.65
Hypothalamus2.61 ± 0.62
Insula2.17 ± 0.92
Limbic Lobe2.51 ± 0.72
Mesencephalon2.71 ± 0.8
Myelencephalon2.53 ± 0.65
Occipital Lobe2.45 ± 0.62
Parietal Lobe2.67 ± 0.6
Pontine Tegmentum2.47 ± 0.68
Striatum2.43 ± 0.65
Subthalamus2.59 ± 0.65
Temporal Lobe2.46 ± 0.72
Thalamus2.41 ± 0.68
White Matter2.91 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ttll12CBCerebellum4.85
5.22
Ttll12CTXCerebral cortex4.56
3.51
Ttll12HIPHippocampal region6.02
5.72
Ttll12HPFHippocampal formation5.29
4.92
Ttll12HYHypothalamus7.7
8.39
Ttll12LSXLateral septal complex0.45
0.31
Ttll12MBMidbrain3.17
4.47
Ttll12MYMedulla12.63
16
Ttll12OLFOlfactory bulb16.72
15.26
Ttll12PPons15.23
21.13
Ttll12PALPallidum3.74
4.47
Ttll12RHPRetrohippocampal region2.9
2.67
Ttll12sAMYStriatum-like amygdalar nuclei3.82
4.46
Ttll12STRStriatum2.56
2.89
Ttll12STRdStriatum dorsal region0.45
0.41
Ttll12STRvStriatum ventral region9.53
10.24
Ttll12THThalamus2.45
1.98
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004466 23 346 368 KLSQERPGVLLNQFPCENLLTVK Peptide Atlas
TTL12_HUMAN_133 12 133 144 QQLQQVPGLLHR PRIDE
TTL12_HUMAN_14 26 14 39 SSPGQTPEEGAQALAEFAALHGPALR PRIDE
TTL12_HUMAN_187 13 187 199 MPVWYIMDEFGSR PRIDE
TTL12_HUMAN_498 26 498 523 AFALNDLDDYEKHFTVMNYDPDVVLK 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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