AutismKB 2.0

Annotation Detail for KIAA1949


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Basic Information Top
Gene Symbol:KIAA1949 ( HKMT1098 )
Gene Full Name: KIAA1949
Band: 6p21.3
Quick LinksEntrez ID:170954; OMIM: 610990; Uniprot ID:PHTNS_HUMAN; ENSEMBL ID: ENSG00000146112; HGNC ID:
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 body8 / 70761113
blastocyst2 / 6231932
fetus28 / 56401249
neonate3 / 3109796
infant0 / 236200 
juvenile4 / 5555671
adult97 / 193912150
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma13 / 82823156
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor15 / 26384556
glioma15 / 106883140
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia16 / 95842166
liver tumor6 / 9635962
lung tumor8 / 10312777
lymphoma19 / 71755264
non-neoplasia4 / 9725041
normal166 / 336030749
ovarian tumor1 / 7668213
pancreatic tumor35 / 104616334
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood17 / 123478137
bone8 / 71655111
bone marrow10 / 48801204
brain35 / 110098931
cervix0 / 481710 
connective tissue11 / 14925573
ear1 / 1621261
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye12 / 21105456
heart5 / 8962655
intestine4 / 23447217
kidney13 / 21177761
larynx0 / 241450 
liver7 / 20774333
lung19 / 33697456
lymph8 / 44270180
lymph node22 / 91610240
mammary gland2 / 15327113
mouth2 / 6705229
muscle4 / 10771537
nerve1 / 1576863
ovary3 / 10205129
pancreas46 / 214812214
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta12 / 28082542
prostate1 / 1893455
salivary gland0 / 201550 
skin11 / 21057452
spleen5 / 5395292
stomach2 / 9661920
testis2 / 3304426
thymus5 / 8113161
thyroid1 / 4747321
tonsil4 / 16999235
trachea3 / 5241357
umbilical cord3 / 13680219
uterus17 / 23287872
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_23_P331479
  • 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
Amygdala6.41 ± 0.31
Basal Forebrain6.48 ± 0.14
Basal Part of Pons6.29 ± 0.34
Cerebellar Cortex5.94 ± 0.26
Cerebellar Nuclei6.84 ± 0.19
Claustrum6.71 ± 0.37
Epithalamus6.25 ± 0.46
Frontal Lobe6.14 ± 0.39
Globus Pallidus7.1 ± 0.37
Hypothalamus6.43 ± 0.39
Insula6.36 ± 0.3
Limbic Lobe6.11 ± 0.55
Mesencephalon6.25 ± 0.37
Myelencephalon6.31 ± 0.37
Occipital Lobe6.23 ± 0.43
Parietal Lobe6.18 ± 0.43
Pontine Tegmentum6.24 ± 0.39
Striatum6.53 ± 0.31
Subthalamus6.57 ± 0.13
Temporal Lobe6.32 ± 0.37
Thalamus6.3 ± 0.34
White Matter5.9 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2310014H01RikCBCerebellum100
100
2310014H01RikCTXCerebral cortex100
100
2310014H01RikHIPHippocampal region100
100
2310014H01RikHPFHippocampal formation100
100
2310014H01RikHYHypothalamus100
100
2310014H01RikLSXLateral septal complex100
100
2310014H01RikMBMidbrain100
100
2310014H01RikMYMedulla100
100
2310014H01RikOLFOlfactory bulb100
100
2310014H01RikPPons100
100
2310014H01RikPALPallidum100
100
2310014H01RikRHPRetrohippocampal region100
100
2310014H01RiksAMYStriatum-like amygdalar nuclei100
100
2310014H01RikSTRStriatum100
100
2310014H01RikSTRdStriatum dorsal region100
100
2310014H01RikSTRvStriatum ventral region100
100
2310014H01RikTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004927 39 51 89 LGLSPGEPSPVLGTVEAGPPDPDESAVLLEAIGPVHQNR Peptide Atlas
PHTNS_HUMAN_123 8 123 130 RPSPGEMR PRIDE
PHTNS_HUMAN_301 23 301 323 EAQGNSSAGVEAAEQRPVEDGER PRIDE
PHTNS_HUMAN_347 17 347 363 DIEAQTQKPEPPESAEK 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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