Evidence Details for FBP2
Basic Information Top
| Gene Symbol: | FBP2 ( MGC142192 ) |
|---|---|
| Gene Full Name: | fructose-1,6-bisphosphatase 2 |
| Band: | 9q22.32 |
| Quick Links | Entrez ID:8789; OMIM: 603027; Uniprot ID:F16P2_HUMAN; ENSEMBL ID: ENSG00000130957; HGNC ID: 3607 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>FBP2|8789|nucleotide
ATGACGGACAGAAGCCCCTTCGAAACCGACATGCTCACCCTGACCCGCTACGTTATGGAAAAGGGGCGTCAGGCCAAAGGGACTGGGGAGCTCACCCAGCTGCTG
AACTCAATGCTGACGGCCATCAAAGCCATCTCCTCGGCTGTGCGCAAGGCCGGTCTGGCCCACCTGTATGGAATCGCAGGAAGCGTTAACGTGACGGGAGATGAG
GTGAAGAAACTGGATGTGCTATCCAATTCCCTGGTGATCAACATGGTCCAATCCTCCTATAGTACCTGCGTCCTGGTCTCAGAAGAGAATAAGGACGCCATCATC
ACCGCCAAGGAGAAGCGGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTAT
AGAAAGACCTCAGAGGATGAGCCTTCTGAAAAGGATGCCCTGCAGTGTGGCCGCAATATTGTGGCCGCAGGTTATGCGCTGTACGGTAGTGCAACCCTGGTGGCT
CTCTCCACAGGGCAAGGCGTGGACCTCTTCATGCTTGACCCGGCTCTTGGTGAATTTGTCCTGGTGGAAAAAGATGTCAAGATTAAGAAGAAAGGAAAGATTTAC
AGCCTGAATGAGGGCTATGCCAAGTATTTTGATGCGGCCACCACTGAATATGTGCAGAAAAAGAAATTCCCTGAGGATGGCAGTGCTCCCTATGGGGCCAGGTAT
GTGGGCTCCATGGTGGCTGACGTGCACCGCACCCTGGTCTATGGAGGAATCTTCCTGTACCCAGCCAACCAGAAGAGCCCTAAGGGCAAGCTCCGGCTCCTGTAT
GAATGCAATCCCGTGGCCTACATCATTGAGCAGGCAGGAGGCTTGGCGACCACGGGGACCCAGCCTGTACTGGACGTGAAGCCCGAGGCAATTCACCAGCGAGTC
CCCCTCATTCTGGGGTCACCAGAGGATGTGCAGGAATATCTCACCTGTGTGCAGAAAAATCAGGCAGGCAGCTAG
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ATGACGGACAGAAGCCCCTTCGAAACCGACATGCTCACCCTGACCCGCTACGTTATGGAAAAGGGGCGTCAGGCCAAAGGGACTGGGGAGCTCACCCAGCTGCTG
AACTCAATGCTGACGGCCATCAAAGCCATCTCCTCGGCTGTGCGCAAGGCCGGTCTGGCCCACCTGTATGGAATCGCAGGAAGCGTTAACGTGACGGGAGATGAG
GTGAAGAAACTGGATGTGCTATCCAATTCCCTGGTGATCAACATGGTCCAATCCTCCTATAGTACCTGCGTCCTGGTCTCAGAAGAGAATAAGGACGCCATCATC
ACCGCCAAGGAGAAGCGGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTAT
AGAAAGACCTCAGAGGATGAGCCTTCTGAAAAGGATGCCCTGCAGTGTGGCCGCAATATTGTGGCCGCAGGTTATGCGCTGTACGGTAGTGCAACCCTGGTGGCT
CTCTCCACAGGGCAAGGCGTGGACCTCTTCATGCTTGACCCGGCTCTTGGTGAATTTGTCCTGGTGGAAAAAGATGTCAAGATTAAGAAGAAAGGAAAGATTTAC
AGCCTGAATGAGGGCTATGCCAAGTATTTTGATGCGGCCACCACTGAATATGTGCAGAAAAAGAAATTCCCTGAGGATGGCAGTGCTCCCTATGGGGCCAGGTAT
GTGGGCTCCATGGTGGCTGACGTGCACCGCACCCTGGTCTATGGAGGAATCTTCCTGTACCCAGCCAACCAGAAGAGCCCTAAGGGCAAGCTCCGGCTCCTGTAT
GAATGCAATCCCGTGGCCTACATCATTGAGCAGGCAGGAGGCTTGGCGACCACGGGGACCCAGCCTGTACTGGACGTGAAGCCCGAGGCAATTCACCAGCGAGTC
CCCCTCATTCTGGGGTCACCAGAGGATGTGCAGGAATATCTCACCTGTGTGCAGAAAAATCAGGCAGGCAGCTAG
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>FBP2|8789|protein
MTDRSPFETDMLTLTRYVMEKGRQAKGTGELTQLLNSMLTAIKAISSAVRKAGLAHLYGIAGSVNVTGDEVKKLDVLSNSLVINMVQSSYSTCVLVSEENKDAII
TAKEKRGKYVVCFDPLDGSSNIDCLASIGTIFAIYRKTSEDEPSEKDALQCGRNIVAAGYALYGSATLVALSTGQGVDLFMLDPALGEFVLVEKDVKIKKKGKIY
SLNEGYAKYFDAATTEYVQKKKFPEDGSAPYGARYVGSMVADVHRTLVYGGIFLYPANQKSPKGKLRLLYECNPVAYIIEQAGGLATTGTQPVLDVKPEAIHQRV
PLILGSPEDVQEYLTCVQKNQAGS
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MTDRSPFETDMLTLTRYVMEKGRQAKGTGELTQLLNSMLTAIKAISSAVRKAGLAHLYGIAGSVNVTGDEVKKLDVLSNSLVINMVQSSYSTCVLVSEENKDAII
TAKEKRGKYVVCFDPLDGSSNIDCLASIGTIFAIYRKTSEDEPSEKDALQCGRNIVAAGYALYGSATLVALSTGQGVDLFMLDPALGEFVLVEKDVKIKKKGKIY
SLNEGYAKYFDAATTEYVQKKKFPEDGSAPYGARYVGSMVADVHRTLVYGGIFLYPANQKSPKGKLRLLYECNPVAYIIEQAGGLATTGTQPVLDVKPEAIHQRV
PLILGSPEDVQEYLTCVQKNQAGS
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Evidence summary Top
Click 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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
| Reference | Case Number | Family Number | de novo Number | Title |
|---|
NGS Mosaic SNV Studies Top
NGS Other Studies Top
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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