Evidence Details for MAPRE2


Gene Symbol: | MAPRE2 ( EB1,EB2,RP1 ) |
---|---|
Gene Full Name: | microtubule-associated protein, RP/EB family, member 2 |
Band: | 18q12.1-q12.2 |
Quick Links | Entrez ID:10982; OMIM: 605789; Uniprot ID:MARE2_HUMAN; ENSEMBL ID: ENSG00000166974; HGNC ID: 6891 |
Relate to Another Database: | SFARIGene; denovo-db |


>MAPRE2|10982|nucleotide
ATGGCGGTCAATGTGTATTCTACCTCGATAACCCAAGAGACTATGAGCAGACATGACATCATTGCATGGGTTAATGACATAGTATCTTTAAACTACACAAAAGTG
GAACAGCTTTGTTCAGGAGCGGCCTATTGCCAATTCATGGACATGCTCTTCCCTGGCTGCATTAGTTTGAAGAAAGTAAAATTTCAAGCAAAGCTGGAACATGAA
TATATTCACAATTTTAAACTTCTGCAAGCATCATTTAAGCGAATGAACGTTGATAAGGTAATTCCAGTGGAGAAGCTAGTGAAAGGACGTTTCCAGGACAACCTG
GATTTTATTCAATGGTTTAAGAAATTCTATGATGCTAACTACGATGGGAAGGAGTATGATCCTGTAGAGGCACGACAAGGGCAAGATGCAATTCCTCCTCCTGAC
CCTGGTGAACAGATCTTCAACCTGCCAAAAAAGTCTCACCATGCAAACTCCCCCACAGCAGGTGCAGCTAAATCAAGTCCAGCAGCTAAACCAGGATCCACACCT
TCTCGACCCTCATCAGCCAAAAGGGCTTCTTCCAGTGGCTCAGCATCCAAATCCGATAAAGATTTAGAAACGCAGGTCATACAGCTTAATGAACAGGTACATTCA
TTAAAACTTGCCCTTGAAGGCGTGGAAAAGGAAAGGGATTTCTACTTTGGGAAGTTGAGAGAGATCGAGCTACTCTGCCAAGAACACGGGCAGGAAAATGATGAC
CTCGTGCAGAGACTAATGGACATCCTGTATGCTTCAGAAGAACACGAGGGCCACACAGAAGAGCCGGAAGCAGAGGAGCAAGCCCACGAACAGCAGCCCCCGCAG
CAGGAAGAGTACTGA
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ATGGCGGTCAATGTGTATTCTACCTCGATAACCCAAGAGACTATGAGCAGACATGACATCATTGCATGGGTTAATGACATAGTATCTTTAAACTACACAAAAGTG
GAACAGCTTTGTTCAGGAGCGGCCTATTGCCAATTCATGGACATGCTCTTCCCTGGCTGCATTAGTTTGAAGAAAGTAAAATTTCAAGCAAAGCTGGAACATGAA
TATATTCACAATTTTAAACTTCTGCAAGCATCATTTAAGCGAATGAACGTTGATAAGGTAATTCCAGTGGAGAAGCTAGTGAAAGGACGTTTCCAGGACAACCTG
GATTTTATTCAATGGTTTAAGAAATTCTATGATGCTAACTACGATGGGAAGGAGTATGATCCTGTAGAGGCACGACAAGGGCAAGATGCAATTCCTCCTCCTGAC
CCTGGTGAACAGATCTTCAACCTGCCAAAAAAGTCTCACCATGCAAACTCCCCCACAGCAGGTGCAGCTAAATCAAGTCCAGCAGCTAAACCAGGATCCACACCT
TCTCGACCCTCATCAGCCAAAAGGGCTTCTTCCAGTGGCTCAGCATCCAAATCCGATAAAGATTTAGAAACGCAGGTCATACAGCTTAATGAACAGGTACATTCA
TTAAAACTTGCCCTTGAAGGCGTGGAAAAGGAAAGGGATTTCTACTTTGGGAAGTTGAGAGAGATCGAGCTACTCTGCCAAGAACACGGGCAGGAAAATGATGAC
CTCGTGCAGAGACTAATGGACATCCTGTATGCTTCAGAAGAACACGAGGGCCACACAGAAGAGCCGGAAGCAGAGGAGCAAGCCCACGAACAGCAGCCCCCGCAG
CAGGAAGAGTACTGA
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>MAPRE2|10982|protein
MAVNVYSTSITQETMSRHDIIAWVNDIVSLNYTKVEQLCSGAAYCQFMDMLFPGCISLKKVKFQAKLEHEYIHNFKLLQASFKRMNVDKVIPVEKLVKGRFQDNL
DFIQWFKKFYDANYDGKEYDPVEARQGQDAIPPPDPGEQIFNLPKKSHHANSPTAGAAKSSPAAKPGSTPSRPSSAKRASSSGSASKSDKDLETQVIQLNEQVHS
LKLALEGVEKERDFYFGKLREIELLCQEHGQENDDLVQRLMDILYASEEHEGHTEEPEAEEQAHEQQPPQQEEY
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MAVNVYSTSITQETMSRHDIIAWVNDIVSLNYTKVEQLCSGAAYCQFMDMLFPGCISLKKVKFQAKLEHEYIHNFKLLQASFKRMNVDKVIPVEKLVKGRFQDNL
DFIQWFKKFYDANYDGKEYDPVEARQGQDAIPPPDPGEQIFNLPKKSHHANSPTAGAAKSSPAAKPGSTPSRPSSAKRASSSGSASKSDKDLETQVIQLNEQVHS
LKLALEGVEKERDFYFGKLREIELLCQEHGQENDDLVQRLMDILYASEEHEGHTEEPEAEEQAHEQQPPQQEEY
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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 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Gilling, 2008 | Denmark | aCGH | ![]() | ![]() | ASD | - | - | - | - | 1 | - | 1 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | ![]() | ![]() | autism | - | - | - | - | 12 | 44 | 56 |




Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | ![]() | ![]() | - | autism | 16 (6.25%) |
1.08678 | Up | 12.9915 | |
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |








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