AutismKB 2.0

Evidence Details for TFPI


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Basic Information Top
Gene Symbol:TFPI ( EPI,LACI,TFI,TFPI1 )
Gene Full Name: tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
Band: 2q32.1
Quick LinksEntrez ID:7035; OMIM: 152310; Uniprot ID:TFPI1_HUMAN; ENSEMBL ID: ENSG00000003436; HGNC ID: 11760
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TFPI|7035|nucleotide
ATGATTTACACAATGAAGAAAGTACATGCACTTTGGGCTTCTGTATGCCTGCTGCTTAATCTTGCCCCTGCCCCTCTTAATGCTGATTCTGAGGAAGATGAAGAA
CACACAATTATCACAGATACGGAGTTGCCACCACTGAAACTTATGCATTCATTTTGTGCATTCAAGGCGGATGATGGCCCATGTAAAGCAATCATGAAAAGATTT
TTCTTCAATATTTTCACTCGACAGTGCGAAGAATTTATATATGGGGGATGTGAAGGAAATCAGAATCGATTTGAAAGTCTGGAAGAGTGCAAAAAAATGTGTACA
AGAGATAATGCAAACAGGATTATAAAGACAACATTGCAACAAGAAAAGCCAGATTTCTGCTTTTTGGAAGAAGATCCTGGAATATGTCGAGGTTATATTACCAGG
TATTTTTATAACAATCAGACAAAACAGTGTGAACGTTTCAAGTATGGTGGATGCCTGGGCAATATGAACAATTTTGAGACACTGGAAGAATGCAAGAACATTTGT
GAAGATGGTCCGAATGGTTTCCAGGTGGATAATTATGGAACCCAGCTCAATGCTGTGAATAACTCCCTGACTCCGCAATCAACCAAGGTTCCCAGCCTTTTTGTT
ACAAAAGAAGGAACAAATGATGGTTGGAAGAATGCGGCTCATATTTACCAAGTCTTTCTGAACGCCTTCTGCATTCATGCATCCATGTTCTTTCTAGGATTGGAT
AGCATTTCATGCCTATGTTAA



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>TFPI|7035|protein
MIYTMKKVHALWASVCLLLNLAPAPLNADSEEDEEHTIITDTELPPLKLMHSFCAFKADDGPCKAIMKRFFFNIFTRQCEEFIYGGCEGNQNRFESLEECKKMCT
RDNANRIIKTTLQQEKPDFCFLEEDPGICRGYITRYFYNNQTKQCERFKYGGCLGNMNNFETLEECKNICEDGPNGFQVDNYGTQLNAVNNSLTPQSTKVPSLFV
TKEGTNDGWKNAAHIYQVFLNAFCIHASMFFLGLDSISCLC


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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 (1) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Maestrini, 2009_1 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 126 126
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top