AutismKB 2.0

Annotation Detail for SFT2D1


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Basic Information Top
Gene Symbol:SFT2D1 ( C6orf83,MGC19825,pRGR1 )
Gene Full Name: SFT2 domain containing 1
Band: 6q27
Quick LinksEntrez ID:113402; OMIM: NA; Uniprot ID:SFT2A_HUMAN; ENSEMBL ID: ENSG00000198818; HGNC ID: 21102
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
blastocyst2 / 6231932
fetus23 / 56401240
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult81 / 193912141
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor7 / 26384526
glioma7 / 10688365
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal131 / 336030738
ovarian tumor8 / 76682104
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder3 / 29757100
blood5 / 12347840
bone7 / 7165597
bone marrow2 / 4880140
brain48 / 110098943
cervix0 / 481710 
connective tissue8 / 14925553
ear5 / 16212308
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye7 / 21105433
heart3 / 8962633
intestine11 / 23447246
kidney8 / 21177737
larynx0 / 241450 
liver5 / 20774324
lung16 / 33697447
lymph1 / 4427022
lymph node13 / 91610141
mammary gland8 / 15327152
mouth0 / 670520 
muscle5 / 10771546
nerve1 / 1576863
ovary10 / 10205197
pancreas13 / 21481260
parathyroid4 / 20539194
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta13 / 28082546
prostate5 / 18934526
salivary gland2 / 2015599
skin3 / 21057414
spleen0 / 539520 
stomach4 / 9661941
testis5 / 33044215
thymus3 / 8113136
thyroid3 / 4747363
tonsil14 / 16999823
trachea1 / 5241319
umbilical cord0 / 136800 
uterus8 / 23287834
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_P321959
  • 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
Amygdala7.46 ± 0.4
Basal Forebrain7.87 ± 0.24
Basal Part of Pons7.7 ± 0.37
Cerebellar Cortex7.58 ± 0.14
Cerebellar Nuclei8.15 ± 0.47
Claustrum7.27 ± 0.38
Epithalamus7.8 ± 0.37
Frontal Lobe7.81 ± 0.34
Globus Pallidus8.76 ± 0.19
Hypothalamus7.83 ± 0.42
Insula7.68 ± 0.24
Limbic Lobe7.57 ± 0.3
Mesencephalon7.79 ± 0.42
Myelencephalon7.77 ± 0.44
Occipital Lobe7.43 ± 0.33
Parietal Lobe7.67 ± 0.32
Pontine Tegmentum7.83 ± 0.33
Striatum8.01 ± 0.31
Subthalamus7.68 ± 0.51
Temporal Lobe7.73 ± 0.3
Thalamus7.89 ± 0.36
White Matter9.46 ± 0.32
Mouse Brain ISH
Peptide Top

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