AutismKB 2.0

Annotation Detail for ANKIB1


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Basic Information Top
Gene Symbol:ANKIB1 ( DKFZp434A0225,FLJ33123,KIAA1386 )
Gene Full Name: ankyrin repeat and IBR domain containing 1
Band: 7q21.2
Quick LinksEntrez ID:54467; OMIM: NA; Uniprot ID:AKIB1_HUMAN; ENSEMBL ID: ENSG00000001629; HGNC ID: 22215
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 body13 / 70761183
blastocyst3 / 6231948
fetus40 / 56401270
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult119 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor22 / 26384583
glioma11 / 106883102
head and neck tumor11 / 13630280
kidney tumor10 / 68959145
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia11 / 97250113
normal223 / 336030766
ovarian tumor2 / 7668226
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder3 / 29757100
blood2 / 12347816
bone5 / 7165569
bone marrow1 / 4880120
brain63 / 110098957
cervix3 / 4817162
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus1 / 2020949
eye18 / 21105485
heart10 / 89626111
intestine13 / 23447255
kidney18 / 21177784
larynx7 / 24145289
liver10 / 20774348
lung7 / 33697420
lymph0 / 442700 
lymph node11 / 91610120
mammary gland5 / 15327132
mouth1 / 6705214
muscle5 / 10771546
nerve2 / 15768126
ovary2 / 10205119
pancreas17 / 21481279
parathyroid6 / 20539292
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta16 / 28082556
prostate7 / 18934536
salivary gland3 / 20155148
skin26 / 210574123
spleen1 / 5395218
stomach5 / 9661951
testis21 / 33044263
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus21 / 23287890
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_P355623
  • 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
Amygdala5.05 ± 0.32
Basal Forebrain5.24 ± 0.15
Basal Part of Pons4.84 ± 0.32
Cerebellar Cortex4.74 ± 0.23
Cerebellar Nuclei4.98 ± 0.45
Claustrum4.85 ± 0.51
Epithalamus5.04 ± 0.35
Frontal Lobe4.98 ± 0.4
Globus Pallidus5.91 ± 0.16
Hypothalamus5.25 ± 0.61
Insula4.88 ± 0.25
Limbic Lobe4.83 ± 0.42
Mesencephalon5.14 ± 0.41
Myelencephalon4.98 ± 0.44
Occipital Lobe5.02 ± 0.43
Parietal Lobe4.89 ± 0.42
Pontine Tegmentum5.04 ± 0.42
Striatum5.28 ± 0.27
Subthalamus5.02 ± 0.41
Temporal Lobe4.93 ± 0.37
Thalamus5.11 ± 0.44
White Matter6.51 ± 0.14
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AKIB1_HUMAN_1033 17 1033 1049 AALSSSELLELGDSLMR PRIDE
PAp00042017 27 76 102 NVHNETSMHLLCMGPQIMISEGALHPR 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