Evidence Details for NAALADL2
Basic Information Top
| Gene Symbol: | NAALADL2 ( - ) |
|---|---|
| Gene Full Name: | N-acetylated alpha-linked acidic dipeptidase-like 2 |
| Band: | 3q26.31 |
| Quick Links | Entrez ID:254827; OMIM: 608806; Uniprot ID:NADL2_HUMAN; ENSEMBL ID: ENSG00000177694; HGNC ID: 23219 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NAALADL2|254827|nucleotide
ATGGGAGAGAATGAAGCAAGTTTACCTAACACGTCTTTGCAAGGTAAAAAGATGGCCTATCAGAAGGTCCATGCAGATCAAAGAGCTCCAGGACACTCACAGTAC
TTAGACAATGATGACCTTCAAGCCACTGCCCTTGACTTAGAGTGGGACATGGAGAAGGAACTAGAGGAGTCTGGTTTTGACCAATTCCAGCTAGACGGTGCTGAG
AATCAGAACCTAGGGCATTCAGAGACTATAGACCTCAATCTTGATTCCATTCAACCAGCAACTTCACCCAAAGGAAGGTTCCAGAGACTTCAAGAAGAATCTGAC
TACATTACCCATTATACACGATCTGCACCAAAGAGCAATCGCTGCAACTTTTGCCACGTCTTAAAAATACTTTGCACAGCCACCATTTTATTTATTTTTGGGATT
TTGATAGGTTATTATGTACATACAAATTGCCCTTCAGATGCTCCATCTTCAGGAACAGTTGATCCTCAGTTATATCAAGAGATTCTCAAGACAATCCAGGCAGAA
GATATTAAGAAGTCTTTCAGAAATTTGGTACAACTATATAAAAATGAAGATGACATGGAAATTTCAAAGAAGATTAAGACTCAGTGGACCTCTTTGGGCCTAGAA
GATGTACAGTTTGTAAATTACTCTGTGCTGCTTGATCTGCCAGGCCCTTCTCCCAGCACTGTGACTCTGAGCAGCAGTGGTCAATGCTTTCATCCTAATGGCCAG
CCTTGCAGTGAAGAAGCCAGAAAAGATAGCAGCCAAGACCTGCTCTATTCATATGCAGCCTATTCTGCCAAAGGAACTCTCAAGGCTGAAGTCATCGATGTGAGT
TATGGAATGGCAGATGATTTAAAAAGGATTAGGAAAATAAAAAACGTAACAAATCAGATCGCACTCCTGAAATTAGGAAAATTGCCACTGCTTTATAAGCTTTCC
TCATTGGAAAAGGCTGGATTTGGAGGTGTTCTTCTGTATATCGATCCTTGTGATTTGCCAAAGACTGTGAATCCTAGCCATGATACCTTCATGGTGTCACTGAAT
CCAGGAGGAGACCCTTCTACGCCTGGTTACCCAAGTGTCGATGAAAGTTTTAGACAAAGCCGATCAAACCTCACCTCTCTATTAGTGCAGCCCATCTCTGCACCC
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ATGGGAGAGAATGAAGCAAGTTTACCTAACACGTCTTTGCAAGGTAAAAAGATGGCCTATCAGAAGGTCCATGCAGATCAAAGAGCTCCAGGACACTCACAGTAC
TTAGACAATGATGACCTTCAAGCCACTGCCCTTGACTTAGAGTGGGACATGGAGAAGGAACTAGAGGAGTCTGGTTTTGACCAATTCCAGCTAGACGGTGCTGAG
AATCAGAACCTAGGGCATTCAGAGACTATAGACCTCAATCTTGATTCCATTCAACCAGCAACTTCACCCAAAGGAAGGTTCCAGAGACTTCAAGAAGAATCTGAC
TACATTACCCATTATACACGATCTGCACCAAAGAGCAATCGCTGCAACTTTTGCCACGTCTTAAAAATACTTTGCACAGCCACCATTTTATTTATTTTTGGGATT
TTGATAGGTTATTATGTACATACAAATTGCCCTTCAGATGCTCCATCTTCAGGAACAGTTGATCCTCAGTTATATCAAGAGATTCTCAAGACAATCCAGGCAGAA
GATATTAAGAAGTCTTTCAGAAATTTGGTACAACTATATAAAAATGAAGATGACATGGAAATTTCAAAGAAGATTAAGACTCAGTGGACCTCTTTGGGCCTAGAA
GATGTACAGTTTGTAAATTACTCTGTGCTGCTTGATCTGCCAGGCCCTTCTCCCAGCACTGTGACTCTGAGCAGCAGTGGTCAATGCTTTCATCCTAATGGCCAG
CCTTGCAGTGAAGAAGCCAGAAAAGATAGCAGCCAAGACCTGCTCTATTCATATGCAGCCTATTCTGCCAAAGGAACTCTCAAGGCTGAAGTCATCGATGTGAGT
TATGGAATGGCAGATGATTTAAAAAGGATTAGGAAAATAAAAAACGTAACAAATCAGATCGCACTCCTGAAATTAGGAAAATTGCCACTGCTTTATAAGCTTTCC
TCATTGGAAAAGGCTGGATTTGGAGGTGTTCTTCTGTATATCGATCCTTGTGATTTGCCAAAGACTGTGAATCCTAGCCATGATACCTTCATGGTGTCACTGAAT
CCAGGAGGAGACCCTTCTACGCCTGGTTACCCAAGTGTCGATGAAAGTTTTAGACAAAGCCGATCAAACCTCACCTCTCTATTAGTGCAGCCCATCTCTGCACCC
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>NAALADL2|254827|protein
MGENEASLPNTSLQGKKMAYQKVHADQRAPGHSQYLDNDDLQATALDLEWDMEKELEESGFDQFQLDGAENQNLGHSETIDLNLDSIQPATSPKGRFQRLQEESD
YITHYTRSAPKSNRCNFCHVLKILCTATILFIFGILIGYYVHTNCPSDAPSSGTVDPQLYQEILKTIQAEDIKKSFRNLVQLYKNEDDMEISKKIKTQWTSLGLE
DVQFVNYSVLLDLPGPSPSTVTLSSSGQCFHPNGQPCSEEARKDSSQDLLYSYAAYSAKGTLKAEVIDVSYGMADDLKRIRKIKNVTNQIALLKLGKLPLLYKLS
SLEKAGFGGVLLYIDPCDLPKTVNPSHDTFMVSLNPGGDPSTPGYPSVDESFRQSRSNLTSLLVQPISAPLVAKLISSPKARTKNEACSSLELPNNEIRVVSMQV
QTVTKLKTVTNVVGFVMGLTSPDRYIIVGSHHHTAHSYNGQEWASSTAIITAFIRALMSKVKRGWRPDRTIVFCSWGGTAFGNIGSYEWGEDFKKVLQKNVVAYI
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MGENEASLPNTSLQGKKMAYQKVHADQRAPGHSQYLDNDDLQATALDLEWDMEKELEESGFDQFQLDGAENQNLGHSETIDLNLDSIQPATSPKGRFQRLQEESD
YITHYTRSAPKSNRCNFCHVLKILCTATILFIFGILIGYYVHTNCPSDAPSSGTVDPQLYQEILKTIQAEDIKKSFRNLVQLYKNEDDMEISKKIKTQWTSLGLE
DVQFVNYSVLLDLPGPSPSTVTLSSSGQCFHPNGQPCSEEARKDSSQDLLYSYAAYSAKGTLKAEVIDVSYGMADDLKRIRKIKNVTNQIALLKLGKLPLLYKLS
SLEKAGFGGVLLYIDPCDLPKTVNPSHDTFMVSLNPGGDPSTPGYPSVDESFRQSRSNLTSLLVQPISAPLVAKLISSPKARTKNEACSSLELPNNEIRVVSMQV
QTVTKLKTVTNVVGFVMGLTSPDRYIIVGSHHHTAHSYNGQEWASSTAIITAFIRALMSKVKRGWRPDRTIVFCSWGGTAFGNIGSYEWGEDFKKVLQKNVVAYI
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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 | 1 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 6 (5) |
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 | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Kuo PH, 2015_1 | Discovery | Affymetrix SNP array 6.0 | 597 (-) | | | ASD | - - |
- | 1595 (-) |
- - | ||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
| Nilsson D, 2017 | 8 | - | 17 | Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially |
NGS 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.