AutismKB 2.0

Annotation Detail for FAM117B


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Basic Information Top
Gene Symbol:FAM117B ( ALS2CR13,DKFZp686H01244,FLJ38771 )
Gene Full Name: family with sequence similarity 117, member B
Band: 2q33.2
Quick LinksEntrez ID:150864; OMIM: NA; Uniprot ID:F117B_HUMAN; ENSEMBL ID: ENSG00000138439; HGNC ID: 14440
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
blastocyst1 / 6231916
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult31 / 193912115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal47 / 336030713
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain16 / 110098914
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine2 / 2344728
kidney7 / 21177733
larynx2 / 2414582
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary5 / 10205148
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate5 / 18934526
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach1 / 9661910
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P195401
  • 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
Amygdala8.63 ± 0.27
Basal Forebrain8.59 ± 0.08
Basal Part of Pons8.5 ± 0.29
Cerebellar Cortex8.77 ± 0.14
Cerebellar Nuclei8.21 ± 0.12
Claustrum8.75 ± 0.25
Epithalamus8.5 ± 0.32
Frontal Lobe8.51 ± 0.27
Globus Pallidus7.43 ± 0.32
Hypothalamus8.98 ± 0.41
Insula8.77 ± 0.32
Limbic Lobe8.44 ± 0.4
Mesencephalon8.51 ± 0.4
Myelencephalon8.53 ± 0.36
Occipital Lobe8.47 ± 0.39
Parietal Lobe8.58 ± 0.31
Pontine Tegmentum8.52 ± 0.39
Striatum8.3 ± 0.41
Subthalamus8.66 ± 0.21
Temporal Lobe8.68 ± 0.24
Thalamus8.35 ± 0.3
White Matter7.73 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Als2cr13CBCerebellum26.83
28.92
Als2cr13CTXCerebral cortex74.88
58.69
Als2cr13HIPHippocampal region47.8
75.44
Als2cr13HPFHippocampal formation46.55
57.76
Als2cr13HYHypothalamus30.56
25.38
Als2cr13LSXLateral septal complex53.83
39.14
Als2cr13MBMidbrain28.29
24.15
Als2cr13MYMedulla18.94
18.2
Als2cr13OLFOlfactory bulb38.35
30.03
Als2cr13PPons17.04
16.56
Als2cr13PALPallidum26.74
22.92
Als2cr13RHPRetrohippocampal region45.28
34.27
Als2cr13sAMYStriatum-like amygdalar nuclei22.44
16.29
Als2cr13STRStriatum32.05
23.06
Als2cr13STRdStriatum dorsal region27.17
19.62
Als2cr13STRvStriatum ventral region46.83
32.19
Als2cr13THThalamus34.15
30.41
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