AutismKB 2.0

Annotation Detail for IFT172


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:IFT172 ( DKFZp434A163,KIAA1179,SLB,osm-1,wim )
Gene Full Name: intraflagellar transport 172 homolog (Chlamydomonas)
Band: 2p23.3
Quick LinksEntrez ID:26160; OMIM: 607386; Uniprot ID:IF172_HUMAN; ENSEMBL ID: ENSG00000138002; HGNC ID: 30391
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
blastocyst1 / 6231916
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult66 / 193912134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor9 / 26384534
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal87 / 336030725
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain25 / 110098922
cervix4 / 4817183
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye10 / 21105447
heart2 / 8962622
intestine9 / 23447238
kidney7 / 21177733
larynx0 / 241450 
liver2 / 2077439
lung14 / 33697441
lymph0 / 442700 
lymph node2 / 9161021
mammary gland4 / 15327126
mouth5 / 6705274
muscle1 / 1077159
nerve1 / 1576863
ovary2 / 10205119
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach7 / 9661972
testis20 / 33044260
thymus2 / 8113124
thyroid2 / 4747342
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6290_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
Amygdala6.73 ± 0.42
Basal Forebrain6.88 ± 0.13
Basal Part of Pons7.24 ± 0.19
Cerebellar Cortex7.07 ± 0.36
Cerebellar Nuclei6.92 ± 0.24
Claustrum6.73 ± 0.31
Epithalamus7.65 ± 0.6
Frontal Lobe6.96 ± 0.3
Globus Pallidus6.8 ± 0.18
Hypothalamus6.9 ± 0.24
Insula6.93 ± 0.27
Limbic Lobe6.97 ± 0.33
Mesencephalon6.88 ± 0.34
Myelencephalon6.97 ± 0.32
Occipital Lobe7.31 ± 0.35
Parietal Lobe7.04 ± 0.3
Pontine Tegmentum6.92 ± 0.25
Striatum6.83 ± 0.31
Subthalamus6.99 ± 0.16
Temporal Lobe6.97 ± 0.27
Thalamus6.86 ± 0.25
White Matter7.26 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ift172CBCerebellum56.37
80.91
Ift172CTXCerebral cortex100
100
Ift172HIPHippocampal region79.77
100
Ift172HPFHippocampal formation98.88
100
Ift172HYHypothalamus97.47
78.26
Ift172LSXLateral septal complex100
98.11
Ift172MBMidbrain88.08
80.6
Ift172MYMedulla85.1
96.47
Ift172OLFOlfactory bulb100
100
Ift172PPons84.19
87.92
Ift172PALPallidum85.43
78.47
Ift172RHPRetrohippocampal region100
100
Ift172sAMYStriatum-like amygdalar nuclei61.78
51.16
Ift172STRStriatum77.84
60.06
Ift172STRdStriatum dorsal region69.59
54.17
Ift172STRvStriatum ventral region97.25
70.48
Ift172THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00499881 14 659 672 FLHETNEIADQVSR 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