AutismKB 2.0

Annotation Detail for KIAA1683


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Basic Information Top
Gene Symbol:KIAA1683 ( MGC131731 )
Gene Full Name: KIAA1683
Band: 19p13.11
Quick LinksEntrez ID:80726; OMIM: NA; Uniprot ID:K1683_HUMAN; ENSEMBL ID: ENSG00000130518; HGNC ID: 29350
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 body0 / 707610 
blastocyst1 / 6231916
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult26 / 193912113
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 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal47 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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 
brain14 / 110098912
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine2 / 2344728
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen6 / 53952111
stomach1 / 9661910
testis97 / 330442293
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11613_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
Amygdala2.1 ± 1.07
Basal Forebrain1.63 ± 0.22
Basal Part of Pons1.5 ± 0.66
Cerebellar Cortex1.87 ± 0.84
Cerebellar Nuclei2.03 ± 0.77
Claustrum2.97 ± 1.1
Epithalamus1.31 ± 0.64
Frontal Lobe1.47 ± 0.7
Globus Pallidus2.04 ± 0.38
Hypothalamus1.73 ± 0.65
Insula1.75 ± 0.77
Limbic Lobe1.72 ± 0.71
Mesencephalon1.84 ± 0.7
Myelencephalon1.77 ± 0.81
Occipital Lobe1.87 ± 0.66
Parietal Lobe1.81 ± 0.99
Pontine Tegmentum1.7 ± 0.76
Striatum1.68 ± 0.59
Subthalamus1.79 ± 0.63
Temporal Lobe1.58 ± 0.73
Thalamus1.65 ± 0.59
White Matter2.3 ± 0.62
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
K1683_HUMAN_1027 6 1027 1032 TVSDHR PRIDE
K1683_HUMAN_1052 16 1052 1067 IGSPPSVVMLVGSSPR PRIDE
K1683_HUMAN_106 10 106 115 AATLIQANWR PRIDE
K1683_HUMAN_1116 10 1116 1125 AATAIQSAWR PRIDE
K1683_HUMAN_1135 7 1135 1141 QQQMAAK PRIDE
K1683_HUMAN_1142 7 1142 1148 IVQATWR PRIDE
K1683_HUMAN_116 5 116 120 GYWLR PRIDE
K1683_HUMAN_181 10 181 190 LLSPPIMVNK PRIDE
K1683_HUMAN_257 8 257 264 CQPCLLTR PRIDE
K1683_HUMAN_312 8 312 319 AQTQGPVK PRIDE
K1683_HUMAN_377 13 377 389 TPAQMYPGPTVTK PRIDE
K1683_HUMAN_403 9 403 411 IQVHPTASR PRIDE
K1683_HUMAN_440 13 440 452 SLPQVCPGPAMAK PRIDE
K1683_HUMAN_466 13 466 478 NPLQTCLSATMSK PRIDE
K1683_HUMAN_497 7 497 503 LPAMITK PRIDE
K1683_HUMAN_50 11 50 60 APPQPQHEGLK PRIDE
K1683_HUMAN_517 13 517 529 TLCLASPTVANVK PRIDE
K1683_HUMAN_569 11 569 579 ASSPSYLAEGK PRIDE
K1683_HUMAN_582 13 582 594 CLAQPHPGTGVPR PRIDE
K1683_HUMAN_63 11 63 73 EHLPQQPAEGK PRIDE
K1683_HUMAN_7 13 7 19 ADLSGNQGNAAGR PRIDE
K1683_HUMAN_703 13 703 715 TPSLAHLDTCLSK PRIDE
K1683_HUMAN_716 13 716 728 MHSQTHLATGAVK PRIDE
K1683_HUMAN_729 13 729 741 VQSQAPLATCLTK PRIDE
K1683_HUMAN_780 8 780 787 VSNHACQR PRIDE
K1683_HUMAN_84 9 84 92 AVVESQAFK PRIDE
K1683_HUMAN_894 9 894 902 GAASWDTWR PRIDE
K1683_HUMAN_939 5 939 943 GYLAR PRIDE
K1683_HUMAN_952 10 952 961 GAMVIQATWR PRIDE
K1683_HUMAN_968 7 968 974 NLAHLCR PRIDE
K1683_HUMAN_975 10 975 984 ATTTIQSAWR 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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