AutismKB 2.0

Annotation Detail for KIAA1671


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Basic Information Top
Gene Symbol:KIAA1671 ( - )
Gene Full Name: KIAA1671
Band: 22q11.23
Quick LinksEntrez ID:85379; OMIM: NA; Uniprot ID:K1671_HUMAN; ENSEMBL ID: ENSG00000197077; HGNC ID: 29345
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 body2 / 7076128
blastocyst2 / 6231932
fetus14 / 56401224
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult68 / 193912135
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 tumor3 / 3436687
chondrosarcoma1 / 8282312
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal87 / 336030725
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain24 / 110098921
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye4 / 21105418
heart3 / 8962633
intestine8 / 23447234
kidney7 / 21177733
larynx0 / 241450 
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node1 / 9161010
mammary gland10 / 15327165
mouth7 / 67052104
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate8 / 18934542
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach2 / 9661920
testis3 / 3304429
thymus7 / 8113186
thyroid3 / 4747363
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord4 / 13680292
uterus12 / 23287851
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P678741
  • 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
Amygdala5.49 ± 0.39
Basal Forebrain5.69 ± 0.26
Basal Part of Pons4.89 ± 0.47
Cerebellar Cortex5.19 ± 0.43
Cerebellar Nuclei5.34 ± 0.36
Claustrum5.61 ± 0.56
Epithalamus6.51 ± 0.71
Frontal Lobe5.69 ± 0.59
Globus Pallidus6.73 ± 0.31
Hypothalamus5.45 ± 0.39
Insula5.55 ± 0.53
Limbic Lobe5.86 ± 0.72
Mesencephalon5.67 ± 0.54
Myelencephalon5.72 ± 0.62
Occipital Lobe5.93 ± 0.61
Parietal Lobe5.74 ± 0.43
Pontine Tegmentum5.74 ± 0.4
Striatum5.71 ± 0.48
Subthalamus5.53 ± 0.55
Temporal Lobe5.55 ± 0.45
Thalamus5.68 ± 0.4
White Matter4.76 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2900026A02RikCBCerebellum8.07
10.54
2900026A02RikCTXCerebral cortex26.86
19.44
2900026A02RikHIPHippocampal region30.88
56.45
2900026A02RikHPFHippocampal formation31.65
42.77
2900026A02RikHYHypothalamus4.15
3.02
2900026A02RikLSXLateral septal complex4.39
3.08
2900026A02RikMBMidbrain2.99
2.75
2900026A02RikMYMedulla6.94
6.84
2900026A02RikOLFOlfactory bulb17.24
12.87
2900026A02RikPPons5.52
5.21
2900026A02RikPALPallidum3.81
3.06
2900026A02RikRHPRetrohippocampal region34.85
28.7
2900026A02RiksAMYStriatum-like amygdalar nuclei2.85
2.28
2900026A02RikSTRStriatum5.29
3.96
2900026A02RikSTRdStriatum dorsal region4.25
3.3
2900026A02RikSTRvStriatum ventral region10.25
6.86
2900026A02RikTHThalamus5.74
4.64
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005346 24 1572 1595 LSSLSSQTEPTSAGDQYDCSRDQR 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