AutismKB 2.0

Evidence Details for FRMPD2


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Basic Information Top
Gene Symbol:FRMPD2 ( MGC178184,MGC178187,MGC35285,MGC87776,MGC87777,MGC90186,PDZD5C,PDZK4,PDZK5C )
Gene Full Name: FERM and PDZ domain containing 2
Band: 10q11.22
Quick LinksEntrez ID:143162; OMIM: 613323; Uniprot ID:FRPD2_HUMAN; ENSEMBL ID: ENSG00000170324; HGNC ID: 28572
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FRMPD2|143162|nucleotide
ATGCAGCCTTTAACGAAGGACGCAGGCATGAGCCTGTCCTCTGTGACGCTGGCCAGCGCCCTACAGGTCAGGGGTGAAGCTCTGTCTGAGGAGGAAATCTGGTCC
CTCCTGTTCCTGGCCGCTGAGCAGCTCCTGGAAGACCTCCGCAACGATTCCTCGGACTATGTGGTTTGCCCCTGGTCAGCCCTGCTTTCTGCAGCTGGAAGCCTT
TCTTTCCAAGGCCGTGTTTCTCATATAGAGGCTGCTCCTTTCAAGGCCCCTGAACTGCTACAGGGACAGAGTGAGGATGAGCAGCCTGATGCATCTCAGATGCAT
GTCTATTCTTTAGGAATGACCCTCTACTGGTCAGCAGGGTTTCATGTTCCGCCACATCAGCCCCTGCAGCTCTGCGAGCCCCTGCACTCCATCCTGCTGACCATG
TGTGAAGACCAGCCTCACAGGCGGTGCACGTTGCAGTCGGTTCTGGAAGCTTGTCGGGTTCATGAGAAAGAAGTGTCTGTCTACCCAGCCCCTGCTGGTCTCCAC
ATCAGAAGGCTGGTTGGCTTGGTTCTGGGTACCATTTCTGAGGTGGAGAAAAGAGTTGTGGAGGAAAGCTCCTCTGTGCAGCAGAACAGAAGCTACCTGCTCAGG
AAGAGGCTGCGTGGGACAAGCAGCGAGAGCCCAGCGGCACAGGCCCCGGAGTGTCTGCATCCTTGCAGAGTTTCAGAAAGAAGCACGGAGACCCAGAGCTCACCA
GAGCCCCATTGGAGCACCTTGACACACAGTCACTGCAGCCTCCTTGTTAACCGCGCTCTTCCAGGAGCAGATCCCCAGGACCAGCAGGCGGGCCGGAGGCTCAGC
TCTGGATCTGTGCACTCGGCAGCAGACAGCTCATGGCCAACAACTCCTTCTCAGAGGGGTTTTCTGCAAAGAAGGAGCAAGTTTTCCAGGCCAGAGTTCATCCTG
TTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGACCAAAAAAGGGAAATCCTATTTGGCTCTCAGGGACCTCTGTGTGGTCCTGCTGAAC
GGGCAGCACCTGGAGGTAAAATGTGATGTTGAATCAACAGTGGGAGCTGTCTTCAATGCCGTGACATCCTTTGCCAACCTCGAGGAACTCACCTACTTTGGCTTG
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>FRMPD2|143162|protein
MQPLTKDAGMSLSSVTLASALQVRGEALSEEEIWSLLFLAAEQLLEDLRNDSSDYVVCPWSALLSAAGSLSFQGRVSHIEAAPFKAPELLQGQSEDEQPDASQMH
VYSLGMTLYWSAGFHVPPHQPLQLCEPLHSILLTMCEDQPHRRCTLQSVLEACRVHEKEVSVYPAPAGLHIRRLVGLVLGTISEVEKRVVEESSSVQQNRSYLLR
KRLRGTSSESPAAQAPECLHPCRVSERSTETQSSPEPHWSTLTHSHCSLLVNRALPGADPQDQQAGRRLSSGSVHSAADSSWPTTPSQRGFLQRRSKFSRPEFIL
LAGEAPMTLHLPGSVVTKKGKSYLALRDLCVVLLNGQHLEVKCDVESTVGAVFNAVTSFANLEELTYFGLAYMKSKEFFFLDSETRLCKIAPEGWREQPQKTSMN
TFTLFLRIKFFVSHYGLLQHSLTRHQFYLQLRKDILEERLYCNEEILLQLGVLALQAEFGNYPKEQVESKPYFHVEDYIPASLIERMTALRVQVEVSEMHRLSSA
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.828565 Down 11.6801
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1658081
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.833373 Down 12.9915
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2356273
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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