AutismKB 2.0

Evidence Details for F2


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Basic Information Top
Gene Symbol:F2 ( PT )
Gene Full Name: coagulation factor II (thrombin)
Band: 11p11.2
Quick LinksEntrez ID:2147; OMIM: 176930; Uniprot ID:THRB_HUMAN; ENSEMBL ID: ENSG00000180210; HGNC ID: 3535
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>F2|2147|nucleotide
ATGGCGCACGTCCGAGGCTTGCAGCTGCCTGGCTGCCTGGCCCTGGCTGCCCTGTGTAGCCTTGTGCACAGCCAGCATGTGTTCCTGGCTCCTCAGCAAGCACGG
TCGCTGCTCCAGCGGGTCCGGCGAGCCAACACCTTCTTGGAGGAGGTGCGCAAGGGCAACCTGGAGCGAGAGTGCGTGGAGGAGACGTGCAGCTACGAGGAGGCC
TTCGAGGCTCTGGAGTCCTCCACGGCTACGGATGTGTTCTGGGCCAAGTACACAGCTTGTGAGACAGCGAGGACGCCTCGAGATAAGCTTGCTGCATGTCTGGAA
GGTAACTGTGCTGAGGGTCTGGGTACGAACTACCGAGGGCATGTGAACATCACCCGGTCAGGCATTGAGTGCCAGCTATGGAGGAGTCGCTACCCACATAAGCCT
GAAATCAACTCCACTACCCATCCTGGGGCCGACCTACAGGAGAATTTCTGCCGCAACCCCGACAGCAGCACCACGGGACCCTGGTGCTACACTACAGACCCCACC
GTGAGGAGGCAGGAATGCAGCATCCCTGTCTGTGGCCAGGATCAAGTCACTGTAGCGATGACTCCACGCTCCGAAGGCTCCAGTGTGAATCTGTCACCTCCATTG
GAGCAGTGTGTCCCTGATCGGGGGCAGCAGTACCAGGGGCGCCTGGCGGTGACCACACATGGGCTCCCCTGCCTGGCCTGGGCCAGCGCACAGGCCAAGGCCCTG
AGCAAGCACCAGGACTTCAACTCAGCTGTGCAGCTGGTGGAGAACTTCTGCCGCAACCCAGACGGGGATGAGGAGGGCGTGTGGTGCTATGTGGCCGGGAAGCCT
GGCGACTTTGGGTACTGCGACCTCAACTATTGTGAGGAGGCCGTGGAGGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGACAGGGCCATCGAAGGGCGTACC
GCCACCAGTGAGTACCAGACTTTCTTCAATCCGAGGACCTTTGGCTCGGGAGAGGCAGACTGTGGGCTGCGACCTCTGTTCGAGAAGAAGTCGCTGGAGGACAAA
ACCGAAAGAGAGCTCCTGGAATCCTACATCGACGGGCGCATTGTGGAGGGCTCGGATGCAGAGATCGGCATGTCACCTTGGCAGGTGATGCTTTTCCGGAAGAGT
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>F2|2147|protein
MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALESSTATDVFWAKYTACETARTPRDKLAACLE
GNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNPDSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSEGSSVNLSPPL
EQCVPDRGQQYQGRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETGDGLDEDSDRAIEGRT
ATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRWVLTAAHCLLYPPWDKNFTEN
DLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQV
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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 (0) 1 (2) 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
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
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: 0
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
No Evidence.
Proteomics Studies:1
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
Corbett, 2007_1 USA blood liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) 69
(15.94%)
ASD 35
(17.14%)
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