AutismKB 2.0

Annotation Detail for FAM57B


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Basic Information Top
Gene Symbol:FAM57B ( DKFZp434I2117 )
Gene Full Name: family with sequence similarity 57, member B
Band: 16p11.2
Quick LinksEntrez ID:83723; OMIM: NA; Uniprot ID:FA57B_HUMAN; ENSEMBL ID: ENSG00000149926; HGNC ID: 25295
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 
blastocyst0 / 623190 
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult29 / 193912114
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal66 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma30 / 46356647
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain31 / 110098928
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye54 / 211054255
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node3 / 9161032
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis23 / 33044269
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
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_7157_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
Amygdala5.75 ± 0.44
Basal Forebrain5.47 ± 0.51
Basal Part of Pons6.04 ± 0.28
Cerebellar Cortex5.93 ± 0.38
Cerebellar Nuclei5.95 ± 0.31
Claustrum5.88 ± 1.03
Epithalamus4.82 ± 0.37
Frontal Lobe5.72 ± 0.48
Globus Pallidus5.47 ± 0.54
Hypothalamus4.96 ± 0.31
Insula5.4 ± 0.34
Limbic Lobe5.7 ± 0.5
Mesencephalon5.56 ± 0.43
Myelencephalon5.57 ± 0.58
Occipital Lobe5.46 ± 0.36
Parietal Lobe5.58 ± 0.51
Pontine Tegmentum5.41 ± 0.51
Striatum4.98 ± 0.41
Subthalamus5.48 ± 0.87
Temporal Lobe5.62 ± 0.44
Thalamus5.55 ± 0.46
White Matter4.2 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1500016O10RikCBCerebellum100
100
1500016O10RikCTXCerebral cortex100
100
1500016O10RikHIPHippocampal region100
100
1500016O10RikHPFHippocampal formation100
100
1500016O10RikHYHypothalamus100
100
1500016O10RikLSXLateral septal complex100
100
1500016O10RikMBMidbrain100
100
1500016O10RikMYMedulla100
100
1500016O10RikOLFOlfactory bulb100
100
1500016O10RikPPons100
100
1500016O10RikPALPallidum100
100
1500016O10RikRHPRetrohippocampal region100
100
1500016O10RiksAMYStriatum-like amygdalar nuclei100
100
1500016O10RikSTRStriatum100
92.13
1500016O10RikSTRdStriatum dorsal region100
80.39
1500016O10RikSTRvStriatum ventral region100
100
1500016O10RikTHThalamus100
100
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