AutismKB 2.0

Annotation Detail for AFAP1L2


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Basic Information Top
Gene Symbol:AFAP1L2 ( FLJ14564,KIAA1914,XB130 )
Gene Full Name: actin filament associated protein 1-like 2
Band: 10q25.3
Quick LinksEntrez ID:84632; OMIM: 612420; Uniprot ID:AF1L2_HUMAN; ENSEMBL ID: ENSG00000169129; HGNC ID: 25901
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
blastocyst0 / 623190 
fetus13 / 56401223
neonate0 / 310970 
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma5 / 10688346
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal102 / 336030730
ovarian tumor5 / 7668265
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood3 / 12347824
bone0 / 716550 
bone marrow0 / 488010 
brain38 / 110098934
cervix0 / 481710 
connective tissue0 / 1492550 
ear1 / 1621261
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye6 / 21105428
heart1 / 8962611
intestine7 / 23447229
kidney6 / 21177728
larynx1 / 2414541
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary6 / 10205158
pancreas3 / 21481213
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate8 / 18934542
salivary gland0 / 201550 
skin1 / 2105744
spleen5 / 5395292
stomach1 / 9661910
testis5 / 33044215
thymus3 / 8113136
thyroid9 / 47473189
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus10 / 23287842
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_24_P33770
  • 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
Amygdala4.15 ± 0.6
Basal Forebrain4.18 ± 0.36
Basal Part of Pons4.07 ± 0.68
Cerebellar Cortex4.57 ± 0.34
Cerebellar Nuclei4.49 ± 0.39
Claustrum4.32 ± 0.84
Epithalamus3.7 ± 0.59
Frontal Lobe4.2 ± 0.57
Globus Pallidus4.61 ± 0.55
Hypothalamus3.94 ± 0.55
Insula4.21 ± 0.42
Limbic Lobe4.01 ± 0.58
Mesencephalon4.23 ± 0.57
Myelencephalon4.1 ± 0.57
Occipital Lobe3.93 ± 0.42
Parietal Lobe4.06 ± 0.52
Pontine Tegmentum4.14 ± 0.62
Striatum3.71 ± 0.64
Subthalamus4.5 ± 0.77
Temporal Lobe4.11 ± 0.53
Thalamus4.19 ± 0.53
White Matter3.78 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AU041783CBCerebellum100
100
AU041783CTXCerebral cortex4.91
3.82
AU041783HIPHippocampal region2.27
2.41
AU041783HPFHippocampal formation1.36
1.34
AU041783HYHypothalamus0.47
0.39
AU041783LSXLateral septal complex0
0
AU041783MBMidbrain0.44
0.61
AU041783MYMedulla3.53
3.66
AU041783OLFOlfactory bulb11.33
10.81
AU041783PPons0.28
0.26
AU041783PALPallidum1.9
2.3
AU041783RHPRetrohippocampal region0.45
0.37
AU041783sAMYStriatum-like amygdalar nuclei3.44
2.6
AU041783STRStriatum1.45
1.25
AU041783STRdStriatum dorsal region1.16
1.12
AU041783STRvStriatum ventral region0.87
0.42
AU041783THThalamus2.64
2.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AF1L2_HUMAN_416 14 416 429 ILHKGEELAKLEAK PRIDE
AF1L2_HUMAN_5 14 5 18 ALEQLLTELDDFLK PRIDE
PAp00095447 20 772 791 AVTPASAPDCTPVNSATTLK 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