Property Summary

NCBI Gene PubMed Count 41
PubMed Score 36.88
PubTator Score 40.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
lung carcinoma 2844 5.92284657407227E-13
pilocytic astrocytoma 3086 3.7582889624281E-8
malignant mesothelioma 3163 8.27148372734011E-8
tuberculosis 1563 1.46962319298625E-6
group 3 medulloblastoma 2254 1.8797886924847E-6
posterior fossa group B ependymoma 1530 2.08008481175208E-6
juvenile dermatomyositis 1189 3.10199068823636E-6
Breast cancer 3099 1.39810816745501E-5
medulloblastoma, large-cell 6234 8.50165855572562E-5
dermatomyositis 967 7.14700151475999E-4
lung cancer 4473 0.00115407780560037
pancreatic cancer 2300 0.00156637717235814
primary pancreatic ductal adenocarcinoma 1271 0.00194455599661531
osteosarcoma 7933 0.00258198373977122
ovarian cancer 8492 0.00510480905742967
Waldenstrons macroglobulinemia 765 0.00640114786259819
atypical teratoid / rhabdoid tumor 4369 0.00644677841372345
fibroadenoma 557 0.01000581677644
adrenocortical carcinoma 1427 0.0183660759895547
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
substance-related disorder 105 0.0 2.0
Disease Target Count Z-score Confidence
Intellectual disability 573 4.02 2.0

Expression

  Differential Expression (19)

Disease log2 FC p
Waldenstrons macroglobulinemia -1.442 0.006
malignant mesothelioma 3.300 0.000
osteosarcoma 1.900 0.003
group 3 medulloblastoma 1.900 0.000
atypical teratoid / rhabdoid tumor 1.100 0.006
medulloblastoma, large-cell 1.900 0.000
juvenile dermatomyositis 1.123 0.000
adrenocortical carcinoma 1.201 0.018
tuberculosis -2.100 0.000
primary pancreatic ductal adenocarcinoma 1.496 0.002
lung cancer -1.100 0.001
fibroadenoma 1.300 0.010
pilocytic astrocytoma -1.800 0.000
posterior fossa group B ependymoma 1.400 0.000
lung carcinoma -1.100 0.000
Breast cancer -1.300 0.000
ovarian cancer -1.600 0.005
pancreatic cancer 1.500 0.002
dermatomyositis 1.500 0.001

Synonym

Accession Q8WXX7 A4D1Y9 L7QET3 L7QF75 Q5D049 Q6PJU5 Q9Y4F2
Symbols MRD26
FBRSL2

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG Inparanoid
Xenopus OMA Inparanoid

Pathway (1)

Gene RIF (27)

PMID Text
26717414 Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory
26545289 Exonic deletions of AUTS2 is associated with developmental delay and intellectual disability.
26348319 The AUTS2 gene has been repeatedly implicated in neurodevelopmental disorders including autism, intellectual disability and developmental delay.
25962312 In summary, our results indicate that AUTS2 is a candidate biomarker for defining liver metastasis of pancreatic cancer and directing personalized therapies.
25519132 the CK2 component of PRC1-AUTS2 neutralizes PRC1 repressive activity, whereas AUTS2-mediated recruitment of P300 leads to gene activation.
25398668 AA homozygotes of rs6943555 were significantly over-represented in the patients with heroin dependence.
25347278 polymorphism rs6943555 might elucidate the pathogenesis of schizophrenia and play an important role in its etiology
25205402 similarities between the phenotypes of 2 male patients with AUTS2 variants support that AUTS2 syndrome is a single gene disorder.
24859339 AUTS2 mutations are associated with autism spectrum disorder.
24459036 This is one of the smallest de novo intragenic deletions of AUTS2.
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AA Sequence

MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRP      1 - 70
RPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKDVALKPQERVEKRQTPLTKKKREALTNGLSFHSKKS     71 - 140
RLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQLKPGQNSCRDSDSESASGESKGFHRSSSRERLSDSS    141 - 210
APSSLGTGYFCDSDSDQEEKASDASSEKLFNTVIVNKDPELGVGTLPEHDSQDAGPIVPKISGLERSQEK    211 - 280
SQDCCKEPIFEPVVLKDPCPQVAQPIPQPQTEPQLRAPSPDPDLVQRTEAPPQPPPLSTQPPQGPPEAQL    281 - 350
QPAPQPQVQRPPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPAKTQPAPP    351 - 420
HISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSE    421 - 490
QDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPA    491 - 560
PPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPFGSLQGAFQPKTSNPIDVAARPGTVPHTLLQ    561 - 630
KDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIH    631 - 700
HPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVT    701 - 770
PNSMFGHKDGPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKD    771 - 840
DKERESVEKRHSSHPSPAPVLPVNALGHTRSSTEQIRAHLNTEAREKDKPKERERDHSESRKDLAADEHK    841 - 910
AKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESARPNSTSSREAEPRKGEPAYENPKKSSEV    911 - 980
KVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLASMPMTVGVTGIHPMNSISSLDRTRMMTPFM    981 - 1050
GISPLPGGERFPYPSFHWDPIRDPLRDPYRELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDRE   1051 - 1120
PHDYSHHHHHHHHPLSVDPRREHERGGHLDERERLHMLREDYEHTRLHSVHPASLDGHLPHPSLITPGLP   1121 - 1190
SMHYPRISPTAGNQNGLLNKTPPTAALSAPPPLISTLGGRPVSPRRTTPLSAEIRERPPSHTLKDIEAR    1191 - 1259
//

Text Mined References (45)

PMID Year Title
26717414 2015 Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory.
26545289 2016 Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.
26348319 2015 A genome-wide association study of antidepressant response in Koreans.
25962312 2015 AUTS2 is a potential therapeutic target for pancreatic cancer patients with liver metastases.
25519132 2014 An AUTS2-Polycomb complex activates gene expression in the CNS.
25398668 2014 The evidence for the contribution of the autism susceptibility candidate 2 (AUTS2) gene in heroin dependence susceptibility.
25347278 2014 Association study identifying a new susceptibility gene (AUTS2) for schizophrenia.
25205402 2015 Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
24459036 2014 De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.
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