AutismKB 2.0

Annotation Detail for FAM46A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FAM46A ( C6orf37,FLJ20037,FLJ31495,XTP11 )
Gene Full Name: family with sequence similarity 46, member A
Band: 6q14.1
Quick LinksEntrez ID:55603; OMIM: 611357; Uniprot ID:FA46A_HUMAN; ENSEMBL ID: ENSG00000112773; HGNC ID: 18345
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 body3 / 7076142
blastocyst2 / 6231932
fetus43 / 56401276
neonate3 / 3109796
infant0 / 236200 
juvenile1 / 5555617
adult136 / 193912170
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor5 / 34366145
chondrosarcoma6 / 8282372
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor9 / 26384534
glioma4 / 10688337
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia10 / 95842104
liver tumor1 / 9635910
lung tumor8 / 10312777
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal224 / 336030766
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor11 / 12494988
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites5 / 40015124
bladder1 / 2975733
blood9 / 12347872
bone5 / 7165569
bone marrow4 / 4880181
brain9 / 11009898
cervix5 / 48171103
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye12 / 21105456
heart6 / 8962666
intestine11 / 23447246
kidney9 / 21177742
larynx3 / 24145124
liver4 / 20774319
lung19 / 33697456
lymph0 / 442700 
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle7 / 10771564
nerve1 / 1576863
ovary7 / 10205168
pancreas19 / 21481288
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland4 / 16585241
placenta73 / 280825259
prostate8 / 18934542
salivary gland0 / 201550 
skin14 / 21057466
spleen3 / 5395255
stomach6 / 9661962
testis4 / 33044212
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus11 / 23287847
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221766_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.6
Adipocyte56.25
AdrenalCortex72.7
Adrenalgland7.65
Amygdala6.25
Appendix7.4
AtrioventricularNode5.55
BDCA4+_DentriticCells35.8
Bonemarrow133.7
BronchialEpithelialCells8.75
CD105+_Endothelial6.45
CD14+_Monocytes70.8
CD19+_BCells(neg._sel.)22.2
CD33+_Myeloid86.85
CD34+103.2
CD4+_Tcells6.7
CD56+_NKCells73.3
CD71+_EarlyErythroid4.8
CD8+_Tcells6.1
CardiacMyocytes8.25
Caudatenucleus5.3
Cerebellum5.1
CerebellumPeduncles7.6
CiliaryGanglion5.15
CingulateCortex5.8
Colorectaladenocarcinoma5.65
DorsalRootGanglion5
FetalThyroid9.8
Fetalbrain6.25
Fetalliver6.8
Fetallung5.25
GlobusPallidus3.7
Heart10
Hypothalamus5.95
Kidney5.8
Leukemia_chronicMyelogenousK-5625.65
Leukemia_promyelocytic-HL-605.5
Leukemialymphoblastic(MOLT-4)4.9
Liver9.55
Lung119.9
Lymphnode5.35
Lymphoma_burkitts(Daudi)7.85
Lymphoma_burkitts(Raji)8.35
MedullaOblongata5.7
OccipitalLobe5.55
OlfactoryBulb21.15
Ovary72.05
Pancreas7.6
PancreaticIslet92.2
ParietalLobe6.4
Pituitary210.2
Placenta1313.75
Pons6.25
PrefrontalCortex7
Prostate90.2
Salivarygland96.95
SkeletalMuscle7.1
Skin9.1
SmoothMuscle14.05
Spinalcord5.85
SubthalamicNucleus5.05
SuperiorCervicalGanglion7
TemporalLobe5.6
Testis5.35
TestisGermCell6.95
TestisIntersitial4.65
TestisLeydigCell6.85
TestisSeminiferousTubule6.35
Thalamus5.45
Thymus7.55
Thyroid8.1
Tongue6.05
Tonsil7.25
Trachea55.5
TrigeminalGanglion9.95
Uterus140.85
UterusCorpus5.75
WholeBlood36.95
Wholebrain5.2
colon51.35
pineal_day334.12
pineal_night429.86
retina13.125
small_intestine37.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_261_PI416408490
  • 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
Amygdala5.52 ± 0.55
Basal Forebrain5.89 ± 0.3
Basal Part of Pons4.52 ± 0.3
Cerebellar Cortex5.99 ± 0.39
Cerebellar Nuclei5.9 ± 0.55
Claustrum5.27 ± 0.52
Epithalamus6.3 ± 0.27
Frontal Lobe5.46 ± 0.57
Globus Pallidus6.39 ± 0.68
Hypothalamus6.98 ± 0.63
Insula5.47 ± 0.37
Limbic Lobe5.34 ± 0.66
Mesencephalon5.92 ± 0.52
Myelencephalon5.62 ± 0.51
Occipital Lobe5.44 ± 0.57
Parietal Lobe5.21 ± 0.58
Pontine Tegmentum5.84 ± 0.42
Striatum6.34 ± 0.86
Subthalamus5.03 ± 0.22
Temporal Lobe5.32 ± 0.46
Thalamus5.61 ± 0.41
White Matter5.91 ± 0.83
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC023892CBCerebellum3.93
4.68
BC023892CTXCerebral cortex10.47
8.15
BC023892HIPHippocampal region6.7
7.32
BC023892HPFHippocampal formation8.02
7.73
BC023892HYHypothalamus10.14
10.95
BC023892LSXLateral septal complex2.82
2.25
BC023892MBMidbrain4.35
3.92
BC023892MYMedulla5.31
5.68
BC023892OLFOlfactory bulb12.88
10.25
BC023892PPons5.35
5.33
BC023892PALPallidum5.67
4.74
BC023892RHPRetrohippocampal region10.58
8.53
BC023892sAMYStriatum-like amygdalar nuclei10.59
9.34
BC023892STRStriatum5.18
4.08
BC023892STRdStriatum dorsal region4.38
3.44
BC023892STRvStriatum ventral region5.94
4.09
BC023892THThalamus3.42
3.19
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00874030 13 322 334 FFIDFSDIGEQQR 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