Evidence Details for L3MBTL2


Gene Symbol: | L3MBTL2 ( H-l(3)mbt-l,L3MBT ) |
---|---|
Gene Full Name: | l(3)mbt-like 2 (Drosophila) |
Band: | 22q13.2 |
Quick Links | Entrez ID:83746; OMIM: 611865; Uniprot ID:LMBL2_HUMAN; ENSEMBL ID: ENSG00000100395; HGNC ID: 18594 |
Relate to Another Database: | SFARIGene; denovo-db |


>L3MBTL2|83746|nucleotide
ATGGAGAAGCCCCGGAGTATTGAGGAGACCCCATCTTCAGAACCAATGGAGGAAGAGGAAGATGACGACTTGGAGCTGTTTGGTGGCTATGATAGTTTCCGGAGT
TATAACAGCAGTGTGGGCAGTGAGAGCAGCTCCTATCTGGAGGAGTCAAGTGAAGCAGAAAATGAGGATCGGGAAGCAGGGGAACTGCCGACCTCCCCGCTGCAT
TTGCTCAGCCCTGGGACTCCTCGCTCCTTGGATGGCAGTGGTTCTGAGCCAGCTGTCTGTGAGATGTGTGGTATCGTGGGTACAAGGGAAGCCTTCTTCTCCAAG
ACCAAGAGGTTCTGCAGCGTCTCCTGCTCCAGGAGCTACTCCTCCAACTCCAAGAAAGCCAGTATCTTGGCTAGGTTACAGGGAAAACCACCGACCAAAAAAGCC
AAAGTCCTGCACAAGGCTGCCTGGTCTGCCAAAATTGGAGCCTTCCTCCACTCTCAAGGGACAGGACAGCTGGCAGATGGGACACCAACAGGACAAGACGCTCTG
GTCTTGGGCTTCGACTGGGGGAAGTTCCTGAAGGATCACAGTTACAAGGCTGCTCCCGTCAGCTGTTTCAAGCACGTCCCACTCTATGACCAGTGGGAGGATGTG
ATGAAAGGGATGAAGGTGGAGGTGCTCAACAGTGATGCTGTGCTCCCCAGCCGGGTGTACTGGATCGCCTCTGTCATCCAGACAGCAGGGTATCGGGTGCTGCTT
CGGTATGAAGGCTTTGAAAATGACGCCAGCCATGACTTCTGGTGCAACCTGGGAACAGTGGATGTCCACCCCATTGGCTGGTGTGCCATCAACAGCAAGATCCTA
GTGCCCCCACGGACCATCCATGCCAAGTTCACCGACTGGAAGGGCTACCTCATGAAACGGCTGGTGGGCTCCAGGACGCTTCCCGTGGATTTCCACATCAAGATG
GTGGAGAGCATGAAGTACCCCTTTAGGCAGGGCATGCGGCTGGAAGTGGTGGACAAGTCCCAGGTGTCACGCACTCGCATGGCTGTGGTGGACACAGTAATCGGG
GGTCGCCTACGGCTCCTCTACGAGGATGGTGACAGTGACGACGACTTCTGGTGCCACATGTGGAGCCCCCTGATCCACCCAGTGGGTTGGTCACGACGTGTGGGC
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ATGGAGAAGCCCCGGAGTATTGAGGAGACCCCATCTTCAGAACCAATGGAGGAAGAGGAAGATGACGACTTGGAGCTGTTTGGTGGCTATGATAGTTTCCGGAGT
TATAACAGCAGTGTGGGCAGTGAGAGCAGCTCCTATCTGGAGGAGTCAAGTGAAGCAGAAAATGAGGATCGGGAAGCAGGGGAACTGCCGACCTCCCCGCTGCAT
TTGCTCAGCCCTGGGACTCCTCGCTCCTTGGATGGCAGTGGTTCTGAGCCAGCTGTCTGTGAGATGTGTGGTATCGTGGGTACAAGGGAAGCCTTCTTCTCCAAG
ACCAAGAGGTTCTGCAGCGTCTCCTGCTCCAGGAGCTACTCCTCCAACTCCAAGAAAGCCAGTATCTTGGCTAGGTTACAGGGAAAACCACCGACCAAAAAAGCC
AAAGTCCTGCACAAGGCTGCCTGGTCTGCCAAAATTGGAGCCTTCCTCCACTCTCAAGGGACAGGACAGCTGGCAGATGGGACACCAACAGGACAAGACGCTCTG
GTCTTGGGCTTCGACTGGGGGAAGTTCCTGAAGGATCACAGTTACAAGGCTGCTCCCGTCAGCTGTTTCAAGCACGTCCCACTCTATGACCAGTGGGAGGATGTG
ATGAAAGGGATGAAGGTGGAGGTGCTCAACAGTGATGCTGTGCTCCCCAGCCGGGTGTACTGGATCGCCTCTGTCATCCAGACAGCAGGGTATCGGGTGCTGCTT
CGGTATGAAGGCTTTGAAAATGACGCCAGCCATGACTTCTGGTGCAACCTGGGAACAGTGGATGTCCACCCCATTGGCTGGTGTGCCATCAACAGCAAGATCCTA
GTGCCCCCACGGACCATCCATGCCAAGTTCACCGACTGGAAGGGCTACCTCATGAAACGGCTGGTGGGCTCCAGGACGCTTCCCGTGGATTTCCACATCAAGATG
GTGGAGAGCATGAAGTACCCCTTTAGGCAGGGCATGCGGCTGGAAGTGGTGGACAAGTCCCAGGTGTCACGCACTCGCATGGCTGTGGTGGACACAGTAATCGGG
GGTCGCCTACGGCTCCTCTACGAGGATGGTGACAGTGACGACGACTTCTGGTGCCACATGTGGAGCCCCCTGATCCACCCAGTGGGTTGGTCACGACGTGTGGGC
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>L3MBTL2|83746|protein
MEKPRSIEETPSSEPMEEEEDDDLELFGGYDSFRSYNSSVGSESSSYLEESSEAENEDREAGELPTSPLHLLSPGTPRSLDGSGSEPAVCEMCGIVGTREAFFSK
TKRFCSVSCSRSYSSNSKKASILARLQGKPPTKKAKVLHKAAWSAKIGAFLHSQGTGQLADGTPTGQDALVLGFDWGKFLKDHSYKAAPVSCFKHVPLYDQWEDV
MKGMKVEVLNSDAVLPSRVYWIASVIQTAGYRVLLRYEGFENDASHDFWCNLGTVDVHPIGWCAINSKILVPPRTIHAKFTDWKGYLMKRLVGSRTLPVDFHIKM
VESMKYPFRQGMRLEVVDKSQVSRTRMAVVDTVIGGRLRLLYEDGDSDDDFWCHMWSPLIHPVGWSRRVGHGIKMSERRSDMAHHPTFRKIYCDAVPYLFKKVRA
VYTEGGWFEEGMKLEAIDPLNLGNICVATVCKVLLDGYLMICVDGGPSTDGLDWFCYHASSHAIFPATFCQKNDIELTPPKGYEAQTFNWENYLEKTKSKAAPSR
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MEKPRSIEETPSSEPMEEEEDDDLELFGGYDSFRSYNSSVGSESSSYLEESSEAENEDREAGELPTSPLHLLSPGTPRSLDGSGSEPAVCEMCGIVGTREAFFSK
TKRFCSVSCSRSYSSNSKKASILARLQGKPPTKKAKVLHKAAWSAKIGAFLHSQGTGQLADGTPTGQDALVLGFDWGKFLKDHSYKAAPVSCFKHVPLYDQWEDV
MKGMKVEVLNSDAVLPSRVYWIASVIQTAGYRVLLRYEGFENDASHDFWCNLGTVDVHPIGWCAINSKILVPPRTIHAKFTDWKGYLMKRLVGSRTLPVDFHIKM
VESMKYPFRQGMRLEVVDKSQVSRTRMAVVDTVIGGRLRLLYEDGDSDDDFWCHMWSPLIHPVGWSRRVGHGIKMSERRSDMAHHPTFRKIYCDAVPYLFKKVRA
VYTEGGWFEEGMKLEAIDPLNLGNICVATVCKVLLDGYLMICVDGGPSTDGLDWFCYHASSHAIFPATFCQKNDIELTPPKGYEAQTFNWENYLEKTKSKAAPSR
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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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Prasad, 2000 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |
Zwaag, 2009 | - | SNP microarray | ![]() | ![]() | autism | - | - | - | - | 105 | 267 | 372 |














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