Evidence Details for NARFL
Basic Information Top
| Gene Symbol: | NARFL ( FLJ21988,HPRN,IOP1,LET1L,PRN ) |
|---|---|
| Gene Full Name: | nuclear prelamin A recognition factor-like |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:64428; OMIM: 611118; Uniprot ID:NARFL_HUMAN; ENSEMBL ID: ENSG00000103245; HGNC ID: 14179 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NARFL|64428|nucleotide
ATGGCGTCGCCCTTCAGCGGGGCGCTGCAGCTGACGGACCTGGATGACTTCATCGGGCCGTCTCAGGAGTGCATCAAGCCTGTCAAAGTGGAAAAAAGGGCGGGA
AGTGGCGTGGCCAAGATTCGCATTGAAGATGACGGGAGCTACTTCCAAATTAACCAAGACGGCGGGACCCGGAGGCTGGAGAAGGCCAAGGTCTCGCTAAACGAC
TGCCTGGCGTGCAGCGGCTGCATCACCTCCGCAGAGACCGTGCTTATCACCCAGCAGAGCCACGAGGAGCTGAAGAAGGTTCTAGATGCTAACAAGATGGCGGCA
CCCAGTCAGCAGAGGCTGGTTGTAGTTTCGGTCTCACCACAGTCTAGAGCATCGCTGGCTGCACGGTTTCAGCTGAATCCTACAGATACTGCCAGGAAATTAACC
TCATTCTTTAAAAAAATAGGGGTGCACTTCGTCTTCGACACCGCCTTCTCAAGGCACTTCAGCCTCCTGGAGAGCCAGCGAGAGTTTGTGCGGCGATTCCGAGGA
CAGGCCGACTGCAGACAGGCGCTGCCCCTGCTGGCCTCTGCCTGCCCAGGCTGGATCTGCTATGCCGAGAAGACTCACGGCAGCTTCATCCTCCCCCACATCAGC
ACCGCCCGGTCCCCGCAGCAGGTCATGGGCTCCCTGGTCAAGGACTTCTTCGCCCAGCAGCAGCACTTGACCCCTGACAAGATCTACCACGTCACAGTGATGCCC
TGCTATGACAAAAAGCTGGAAGCCTCCAGACCCGACTTTTTCAACCAGGAGCACCAGACACGGGATGTGGACTGTGTCCTCACAACAGGAGAAGTTTTCAGGTTG
CTGGAGGAAGAGGGCGTCTCCCTCCCCGACCTGGAACCAGCCCCTCTGGACAGCCTGTGCAGCGGTGCCTCTGCAGAGGAGCCCACCAGCCATCGGGGAGGGGGC
TCGGGGGGCTACCTGGAGCACGTGTTCCGGCACGCGGCCCGAGAGCTCTTTGGAATCCATGTGGCTGAGGTTACCTACAAACCCCTGAGGAACAAAGACTTCCAG
GAGGTGACACTGGAGAAGGAGGGCCAGGTGCTGCTGCACTTCGCAATGGCGTACGGCTTCCGCAACATCCAGAACCTGGTGCAGAGGCTCAAACGAGGGCGCTGC
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ATGGCGTCGCCCTTCAGCGGGGCGCTGCAGCTGACGGACCTGGATGACTTCATCGGGCCGTCTCAGGAGTGCATCAAGCCTGTCAAAGTGGAAAAAAGGGCGGGA
AGTGGCGTGGCCAAGATTCGCATTGAAGATGACGGGAGCTACTTCCAAATTAACCAAGACGGCGGGACCCGGAGGCTGGAGAAGGCCAAGGTCTCGCTAAACGAC
TGCCTGGCGTGCAGCGGCTGCATCACCTCCGCAGAGACCGTGCTTATCACCCAGCAGAGCCACGAGGAGCTGAAGAAGGTTCTAGATGCTAACAAGATGGCGGCA
CCCAGTCAGCAGAGGCTGGTTGTAGTTTCGGTCTCACCACAGTCTAGAGCATCGCTGGCTGCACGGTTTCAGCTGAATCCTACAGATACTGCCAGGAAATTAACC
TCATTCTTTAAAAAAATAGGGGTGCACTTCGTCTTCGACACCGCCTTCTCAAGGCACTTCAGCCTCCTGGAGAGCCAGCGAGAGTTTGTGCGGCGATTCCGAGGA
CAGGCCGACTGCAGACAGGCGCTGCCCCTGCTGGCCTCTGCCTGCCCAGGCTGGATCTGCTATGCCGAGAAGACTCACGGCAGCTTCATCCTCCCCCACATCAGC
ACCGCCCGGTCCCCGCAGCAGGTCATGGGCTCCCTGGTCAAGGACTTCTTCGCCCAGCAGCAGCACTTGACCCCTGACAAGATCTACCACGTCACAGTGATGCCC
TGCTATGACAAAAAGCTGGAAGCCTCCAGACCCGACTTTTTCAACCAGGAGCACCAGACACGGGATGTGGACTGTGTCCTCACAACAGGAGAAGTTTTCAGGTTG
CTGGAGGAAGAGGGCGTCTCCCTCCCCGACCTGGAACCAGCCCCTCTGGACAGCCTGTGCAGCGGTGCCTCTGCAGAGGAGCCCACCAGCCATCGGGGAGGGGGC
TCGGGGGGCTACCTGGAGCACGTGTTCCGGCACGCGGCCCGAGAGCTCTTTGGAATCCATGTGGCTGAGGTTACCTACAAACCCCTGAGGAACAAAGACTTCCAG
GAGGTGACACTGGAGAAGGAGGGCCAGGTGCTGCTGCACTTCGCAATGGCGTACGGCTTCCGCAACATCCAGAACCTGGTGCAGAGGCTCAAACGAGGGCGCTGC
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>NARFL|64428|protein
MASPFSGALQLTDLDDFIGPSQECIKPVKVEKRAGSGVAKIRIEDDGSYFQINQDGGTRRLEKAKVSLNDCLACSGCITSAETVLITQQSHEELKKVLDANKMAA
PSQQRLVVVSVSPQSRASLAARFQLNPTDTARKLTSFFKKIGVHFVFDTAFSRHFSLLESQREFVRRFRGQADCRQALPLLASACPGWICYAEKTHGSFILPHIS
TARSPQQVMGSLVKDFFAQQQHLTPDKIYHVTVMPCYDKKLEASRPDFFNQEHQTRDVDCVLTTGEVFRLLEEEGVSLPDLEPAPLDSLCSGASAEEPTSHRGGG
SGGYLEHVFRHAARELFGIHVAEVTYKPLRNKDFQEVTLEKEGQVLLHFAMAYGFRNIQNLVQRLKRGRCPYHYVEVMACPSGCLNGGGQLQAPDRPSRELLQHV
ERLYGMVRAEAPEDAPGVQELYTHWLQGTDSECAGRLLHTQYHAVEKASTGLGIRW
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MASPFSGALQLTDLDDFIGPSQECIKPVKVEKRAGSGVAKIRIEDDGSYFQINQDGGTRRLEKAKVSLNDCLACSGCITSAETVLITQQSHEELKKVLDANKMAA
PSQQRLVVVSVSPQSRASLAARFQLNPTDTARKLTSFFKKIGVHFVFDTAFSRHFSLLESQREFVRRFRGQADCRQALPLLASACPGWICYAEKTHGSFILPHIS
TARSPQQVMGSLVKDFFAQQQHLTPDKIYHVTVMPCYDKKLEASRPDFFNQEHQTRDVDCVLTTGEVFRLLEEEGVSLPDLEPAPLDSLCSGASAEEPTSHRGGG
SGGYLEHVFRHAARELFGIHVAEVTYKPLRNKDFQEVTLEKEGQVLLHFAMAYGFRNIQNLVQRLKRGRCPYHYVEVMACPSGCLNGGGQLQAPDRPSRELLQHV
ERLYGMVRAEAPEDAPGVQELYTHWLQGTDSECAGRLLHTQYHAVEKASTGLGIRW
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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 (2) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | ![]() | ![]() | autism | 115 | - | 115 | - | - | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | ![]() | ![]() | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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