Evidence Details for TFPI
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 Links | Entrez 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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ATGATTTACACAATGAAGAAAGTACATGCACTTTGGGCTTCTGTATGCCTGCTGCTTAATCTTGCCCCTGCCCCTCTTAATGCTGATTCTGAGGAAGATGAAGAA
CACACAATTATCACAGATACGGAGTTGCCACCACTGAAACTTATGCATTCATTTTGTGCATTCAAGGCGGATGATGGCCCATGTAAAGCAATCATGAAAAGATTT
TTCTTCAATATTTTCACTCGACAGTGCGAAGAATTTATATATGGGGGATGTGAAGGAAATCAGAATCGATTTGAAAGTCTGGAAGAGTGCAAAAAAATGTGTACA
AGAGATAATGCAAACAGGATTATAAAGACAACATTGCAACAAGAAAAGCCAGATTTCTGCTTTTTGGAAGAAGATCCTGGAATATGTCGAGGTTATATTACCAGG
TATTTTTATAACAATCAGACAAAACAGTGTGAACGTTTCAAGTATGGTGGATGCCTGGGCAATATGAACAATTTTGAGACACTGGAAGAATGCAAGAACATTTGT
GAAGATGGTCCGAATGGTTTCCAGGTGGATAATTATGGAACCCAGCTCAATGCTGTGAATAACTCCCTGACTCCGCAATCAACCAAGGTTCCCAGCCTTTTTGTT
ACAAAAGAAGGAACAAATGATGGTTGGAAGAATGCGGCTCATATTTACCAAGTCTTTCTGAACGCCTTCTGCATTCATGCATCCATGTTCTTTCTAGGATTGGAT
AGCATTTCATGCCTATGTTAA
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>TFPI|7035|protein
MIYTMKKVHALWASVCLLLNLAPAPLNADSEEDEEHTIITDTELPPLKLMHSFCAFKADDGPCKAIMKRFFFNIFTRQCEEFIYGGCEGNQNRFESLEECKKMCT
RDNANRIIKTTLQQEKPDFCFLEEDPGICRGYITRYFYNNQTKQCERFKYGGCLGNMNNFETLEECKNICEDGPNGFQVDNYGTQLNAVNNSLTPQSTKVPSLFV
TKEGTNDGWKNAAHIYQVFLNAFCIHASMFFLGLDSISCLC
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MIYTMKKVHALWASVCLLLNLAPAPLNADSEEDEEHTIITDTELPPLKLMHSFCAFKADDGPCKAIMKRFFFNIFTRQCEEFIYGGCEGNQNRFESLEECKKMCT
RDNANRIIKTTLQQEKPDFCFLEEDPGICRGYITRYFYNNQTKQCERFKYGGCLGNMNNFETLEECKNICEDGPNGFQVDNYGTQLNAVNNSLTPQSTKVPSLFV
TKEGTNDGWKNAAHIYQVFLNAFCIHASMFFLGLDSISCLC
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-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-band | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | |  | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.