AutismKB 2.0

Annotation Detail for ANKRD54


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Basic Information Top
Gene Symbol:ANKRD54 ( LIAR )
Gene Full Name: ankyrin repeat domain 54
Band: 22q13.1
Quick LinksEntrez ID:129138; OMIM: 613383; Uniprot ID:ANR54_HUMAN; ENSEMBL ID: ENSG00000100124; HGNC ID: 25185
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
blastocyst0 / 623190 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult67 / 193912134
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma4 / 7175555
non-neoplasia0 / 972500 
normal102 / 336030730
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone2 / 7165527
bone marrow0 / 488010 
brain36 / 110098932
cervix8 / 48171166
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine5 / 23447221
kidney4 / 21177718
larynx0 / 241450 
liver5 / 20774324
lung10 / 33697429
lymph4 / 4427090
lymph node0 / 916100 
mammary gland8 / 15327152
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta15 / 28082553
prostate11 / 18934558
salivary gland0 / 201550 
skin9 / 21057442
spleen1 / 5395218
stomach1 / 9661910
testis10 / 33044230
thymus0 / 811310 
thyroid2 / 4747342
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P120921
  • 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
Amygdala4.55 ± 0.55
Basal Forebrain4.48 ± 0.5
Basal Part of Pons4.8 ± 0.48
Cerebellar Cortex4.97 ± 0.41
Cerebellar Nuclei4.45 ± 0.51
Claustrum4.01 ± 0.64
Epithalamus5.38 ± 0.78
Frontal Lobe4.81 ± 0.48
Globus Pallidus4.19 ± 0.5
Hypothalamus4.64 ± 0.57
Insula4.77 ± 0.28
Limbic Lobe4.64 ± 0.52
Mesencephalon4.6 ± 0.43
Myelencephalon4.66 ± 0.55
Occipital Lobe4.46 ± 0.41
Parietal Lobe4.59 ± 0.53
Pontine Tegmentum4.51 ± 0.54
Striatum4.34 ± 0.53
Subthalamus4.78 ± 0.4
Temporal Lobe4.74 ± 0.47
Thalamus4.68 ± 0.5
White Matter4.09 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ankrd54CBCerebellum58.61
57.38
Ankrd54CTXCerebral cortex60.82
57.06
Ankrd54HIPHippocampal region68.23
70.36
Ankrd54HPFHippocampal formation72.6
66.35
Ankrd54HYHypothalamus46.11
37.62
Ankrd54LSXLateral septal complex23.69
14.92
Ankrd54MBMidbrain48.02
46.35
Ankrd54MYMedulla68.01
70.12
Ankrd54OLFOlfactory bulb72.05
62.34
Ankrd54PPons60.29
67.53
Ankrd54PALPallidum35.24
34.93
Ankrd54RHPRetrohippocampal region66.83
60.63
Ankrd54sAMYStriatum-like amygdalar nuclei46.07
35.3
Ankrd54STRStriatum17.69
13.37
Ankrd54STRdStriatum dorsal region9.62
8.33
Ankrd54STRvStriatum ventral region27.65
16.75
Ankrd54THThalamus42.44
39.84
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ANR54_HUMAN_2 12 2 13 AAAAGDADDEPR PRIDE
PAp00077600 18 218 235 SKLNILQEGHAQCLEAVR 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