Evidence Details for MAP7D2
Basic Information Top
| Gene Symbol: | MAP7D2 ( FLJ14503,MGC104944 ) |
|---|---|
| Gene Full Name: | MAP7 domain containing 2 |
| Band: | Xp22.12 |
| Quick Links | Entrez ID:256714; OMIM: NA; Uniprot ID:MA7D2_HUMAN; ENSEMBL ID: ENSG00000184368; HGNC ID: 25899 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MAP7D2|256714|nucleotide
ATGGAGCGCGGCGGCGGCGGCTCCGGGACGGGATCCCGGCCTGAGGGGACTGCGCGGGGAACCTCTCTCCCAGGGAAGATCGCAGAACCGGGCGCGGTGCGGACC
TCTCAGCCCAACTACCGGCCTCAAGGCATGGAGGGATTTTTGAAATCAGATGAGAGGCAGAGATTGGCCAAAGAAAGACGAGAAGAAAGAGAAAAATGTCTGGCT
GCTCGGGAGCAACAGATCCTGGAGAAACAGAAAAGAGCCAGGCTGCAGTACGAAAAGCAAATGGAGGAGCGATGGCGAAAACTGGAAGAGCAGCGGCAGCGGGAG
GACCAAAAGAGAGCTGCTGTGGAAGAGAAAAGGAAACAGAAGCTCCGGGAGGAGGAGGAACGGCTGGAGGCGATGATGCGCCGGTCCCTGGAGCGCACACAGCAG
CTGGAGCTGAAAAAGAAGTATTCGTGGGGAGCACCACTGGCCATTGGACCCGGAGGACATGATGCATGTGACAAACTTTCAACATCAACTATGAGTTTGCCAAAG
CCAACGGAGCCTCCCATGAATAAACGCCTGTCTTCATCCACCGTGGCAATATCCTATTCCCCAGACCGAGCTCATCACATGCACCTTAGTCCAATGGAAGCCATT
CTTGTTTCGCGACTGTTGACACCCACACAGTCTTCTTTAGCCAGAAGCAGAGCTTCAGTCATGCTCTCTGGGCAGGCCAATGATTCAGTATTCCATGTCTGTCCT
CGTTTAGCTCCTCTTGGCCCTCTTAACCCTTCTTACAAGTCTTCACCCACTCGAAACATTGAGAAGAAGAAAGCTACATCTACGTCTACATCTGGTGCAGGAGAT
GTTGGGAAAGAAGCCCTTTCAGGAGGAGAGGCCTCTCTGGTGGAGAAGGTGAAGCGGGGGCAACGAACAGCAACTTCTCTTCCTGTTGTGAACTTCGGGTCCCCT
CTGAGAAGATGTGAGTTTTCTGGAGGCATTCCTAAGAGACCATCTTCTCCTGTGATATCCAAGACAGCTACTAAAGCTTATCCACAGTCTCCAAAGACAACGAAA
CCTCCCTACCCAGGGTCTCCTGTGAAGTACCGCTTACCTGCCCTTTCTGGCCAAGACATGCCCAAGAGGAAAGCGGAGAAAGAGAAGAGCAACAAGGAAAGGGAA
Show »
ATGGAGCGCGGCGGCGGCGGCTCCGGGACGGGATCCCGGCCTGAGGGGACTGCGCGGGGAACCTCTCTCCCAGGGAAGATCGCAGAACCGGGCGCGGTGCGGACC
TCTCAGCCCAACTACCGGCCTCAAGGCATGGAGGGATTTTTGAAATCAGATGAGAGGCAGAGATTGGCCAAAGAAAGACGAGAAGAAAGAGAAAAATGTCTGGCT
GCTCGGGAGCAACAGATCCTGGAGAAACAGAAAAGAGCCAGGCTGCAGTACGAAAAGCAAATGGAGGAGCGATGGCGAAAACTGGAAGAGCAGCGGCAGCGGGAG
GACCAAAAGAGAGCTGCTGTGGAAGAGAAAAGGAAACAGAAGCTCCGGGAGGAGGAGGAACGGCTGGAGGCGATGATGCGCCGGTCCCTGGAGCGCACACAGCAG
CTGGAGCTGAAAAAGAAGTATTCGTGGGGAGCACCACTGGCCATTGGACCCGGAGGACATGATGCATGTGACAAACTTTCAACATCAACTATGAGTTTGCCAAAG
CCAACGGAGCCTCCCATGAATAAACGCCTGTCTTCATCCACCGTGGCAATATCCTATTCCCCAGACCGAGCTCATCACATGCACCTTAGTCCAATGGAAGCCATT
CTTGTTTCGCGACTGTTGACACCCACACAGTCTTCTTTAGCCAGAAGCAGAGCTTCAGTCATGCTCTCTGGGCAGGCCAATGATTCAGTATTCCATGTCTGTCCT
CGTTTAGCTCCTCTTGGCCCTCTTAACCCTTCTTACAAGTCTTCACCCACTCGAAACATTGAGAAGAAGAAAGCTACATCTACGTCTACATCTGGTGCAGGAGAT
GTTGGGAAAGAAGCCCTTTCAGGAGGAGAGGCCTCTCTGGTGGAGAAGGTGAAGCGGGGGCAACGAACAGCAACTTCTCTTCCTGTTGTGAACTTCGGGTCCCCT
CTGAGAAGATGTGAGTTTTCTGGAGGCATTCCTAAGAGACCATCTTCTCCTGTGATATCCAAGACAGCTACTAAAGCTTATCCACAGTCTCCAAAGACAACGAAA
CCTCCCTACCCAGGGTCTCCTGTGAAGTACCGCTTACCTGCCCTTTCTGGCCAAGACATGCCCAAGAGGAAAGCGGAGAAAGAGAAGAGCAACAAGGAAAGGGAA
Show »
>MAP7D2|256714|protein
MERGGGGSGTGSRPEGTARGTSLPGKIAEPGAVRTSQPNYRPQGMEGFLKSDERQRLAKERREEREKCLAAREQQILEKQKRARLQYEKQMEERWRKLEEQRQRE
DQKRAAVEEKRKQKLREEEERLEAMMRRSLERTQQLELKKKYSWGAPLAIGPGGHDACDKLSTSTMSLPKPTEPPMNKRLSSSTVAISYSPDRAHHMHLSPMEAI
LVSRLLTPTQSSLARSRASVMLSGQANDSVFHVCPRLAPLGPLNPSYKSSPTRNIEKKKATSTSTSGAGDVGKEALSGGEASLVEKVKRGQRTATSLPVVNFGSP
LRRCEFSGGIPKRPSSPVISKTATKAYPQSPKTTKPPYPGSPVKYRLPALSGQDMPKRKAEKEKSNKEREGTLAQQAAGPQGEEALEKHVVDKHASEKHAAAAGG
KAENSAALGKPTAGTTDAGEAAKILAEKRRQARLQKEQEEQERLEKEEQDRLEREELKRKAEEERLRLEEEARKQEEERKRQEEEKKKQEGEEKRKAGEEAKRKA
Show »
MERGGGGSGTGSRPEGTARGTSLPGKIAEPGAVRTSQPNYRPQGMEGFLKSDERQRLAKERREEREKCLAAREQQILEKQKRARLQYEKQMEERWRKLEEQRQRE
DQKRAAVEEKRKQKLREEEERLEAMMRRSLERTQQLELKKKYSWGAPLAIGPGGHDACDKLSTSTMSLPKPTEPPMNKRLSSSTVAISYSPDRAHHMHLSPMEAI
LVSRLLTPTQSSLARSRASVMLSGQANDSVFHVCPRLAPLGPLNPSYKSSPTRNIEKKKATSTSTSGAGDVGKEALSGGEASLVEKVKRGQRTATSLPVVNFGSP
LRRCEFSGGIPKRPSSPVISKTATKAYPQSPKTTKPPYPGSPVKYRLPALSGQDMPKRKAEKEKSNKEREGTLAQQAAGPQGEEALEKHVVDKHASEKHAAAAGG
KAENSAALGKPTAGTTDAGEAAKILAEKRRQARLQKEQEEQERLEKEEQDRLEREELKRKAEEERLRLEEEARKQEEERKRQEEEKKKQEGEEKRKAGEEAKRKA
Show »
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 (0) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 3 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Vazna, 2010 | Czech | aCGH |  |  | ASD | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top 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%) |
0.695166 | Down | 0.349478 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
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.