AutismKB 2.0

Annotation Detail for SGIP1


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Basic Information Top
Gene Symbol:SGIP1 ( DKFZp686A16142,DKFZp761D221,FLJ33378,FLJ43054 )
Gene Full Name: SH3-domain GRB2-like (endophilin) interacting protein 1
Band: 1p31.3
Quick LinksEntrez ID:84251; OMIM: 611540; Uniprot ID:SGIP1_HUMAN; ENSEMBL ID: ENSG00000118473; HGNC ID: 25412
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
blastocyst0 / 623190 
fetus25 / 56401244
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult60 / 193912130
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal122 / 336030736
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor2 / 9025722
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 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain55 / 110098949
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye36 / 211054170
heart0 / 896260 
intestine1 / 2344724
kidney5 / 21177723
larynx1 / 2414541
liver1 / 2077434
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle4 / 10771537
nerve2 / 15768126
ovary2 / 10205119
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P333857
  • 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
Amygdala11.03 ± 0.45
Basal Forebrain10.65 ± 0.18
Basal Part of Pons10.35 ± 0.35
Cerebellar Cortex10.21 ± 0.29
Cerebellar Nuclei10.03 ± 0.49
Claustrum10.87 ± 0.33
Epithalamus9.76 ± 0.61
Frontal Lobe10.39 ± 0.37
Globus Pallidus9.65 ± 0.46
Hypothalamus10.36 ± 0.4
Insula10.45 ± 0.25
Limbic Lobe10.74 ± 0.36
Mesencephalon10.57 ± 0.54
Myelencephalon10.44 ± 0.45
Occipital Lobe10.97 ± 0.48
Parietal Lobe10.5 ± 0.35
Pontine Tegmentum10.55 ± 0.39
Striatum11.28 ± 0.3
Subthalamus10.1 ± 0.16
Temporal Lobe10.52 ± 0.32
Thalamus10.48 ± 0.29
White Matter9.49 ± 0.55
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