Evidence Details for HEATR1
Basic Information Top
| Gene Symbol: | HEATR1 ( BAP28,FLJ10359,MGC72083 ) |
|---|---|
| Gene Full Name: | HEAT repeat containing 1 |
| Band: | 1q43 |
| Quick Links | Entrez ID:55127; OMIM: NA; Uniprot ID:HEAT1_HUMAN; ENSEMBL ID: ENSG00000119285; HGNC ID: 25517 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>HEATR1|55127|nucleotide
ATGACGTCCTTAGCCCAGCAGCTGCAACGACTCGCCCTCCCTCAAAGTGATGCCAGCCTCTTATCTAGAGATGAAGTTGCTTCTTTGTTATTTGACCCTAAGGAA
GCGGCCACAATCGACAGGGACACCGCCTTCGCCATTGGATGTACTGGCCTGGAAGAGTTGCTTGGAATTGATCCTTCCTTTGAGCAGTTTGAAGCACCGTTGTTC
AGTCAGCTAGCAAAAACCTTGGAGCGAAGTGTTCAGACCAAAGCAGTAAACAAACAGTTGGATGAAAACATTTCATTATTCCTTATTCACTTGTCGCCTTACTTC
CTGCTTAAGCCAGCACAGAAGTGTCTGGAGTGGTTGATTCACAGGTTCCATATACATCTCTATAATCAAGATAGCCTCATTGCTTGTGTTCTGCCATACCACGAG
ACAAGAATATTTGTGCGAGTCATACAGCTTCTAAAAATTAATAATTCAAAGCACAGATGGTTCTGGTTGTTGCCAGTTAAGCAATCTGGAGTGCCGTTAGCTAAA
GGAACTTTGATTACCCACTGCTACAAAGATCTTGGATTCATGGATTTCATTTGCAGTTTGGTGACAAAATCTGTGAAGGTTTTTGCTGAGTACCCGGGCAGCTCA
GCTCAGTTGAGGGTGCTCTTGGCTTTCTATGCTTCTACCATAGTGTCGGCGCTGGTAGCTGCAGAGGACGTATCAGACAATATCATCGCCAAACTATTTCCCTAT
ATCCAAAAGGGATTGAAATCATCTTTACCAGATTACAGAGCTGCAACATACATGATAATATGTCAGATTTCTGTGAAAGTGACCATGGAAAATACCTTTGTGAAT
TCATTGGCATCACAGATCATCAAAACATTGACCAAGATTCCCTCTTTGATCAAGGATGGGTTAAGTTGCTTGATAGTGCTCCTGCAGAGACAGAAGCCAGAGAGC
CTTGGGAAAAAGCCATTCCCTCACTTATGTAATGTTCCTGATCTTATTACAATACTTCATGGGATTTCTGAAACTTACGATGTCAGTCCTCTTCTGCATTACATG
CTTCCCCATCTGGTCGTCTCCATCATTCATCATGTTACAGGAGAAGAAACTGAAGGAATGGATGGTCAAATCTACAAGAGACACTTAGAAGCTATACTTACAAAA
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ATGACGTCCTTAGCCCAGCAGCTGCAACGACTCGCCCTCCCTCAAAGTGATGCCAGCCTCTTATCTAGAGATGAAGTTGCTTCTTTGTTATTTGACCCTAAGGAA
GCGGCCACAATCGACAGGGACACCGCCTTCGCCATTGGATGTACTGGCCTGGAAGAGTTGCTTGGAATTGATCCTTCCTTTGAGCAGTTTGAAGCACCGTTGTTC
AGTCAGCTAGCAAAAACCTTGGAGCGAAGTGTTCAGACCAAAGCAGTAAACAAACAGTTGGATGAAAACATTTCATTATTCCTTATTCACTTGTCGCCTTACTTC
CTGCTTAAGCCAGCACAGAAGTGTCTGGAGTGGTTGATTCACAGGTTCCATATACATCTCTATAATCAAGATAGCCTCATTGCTTGTGTTCTGCCATACCACGAG
ACAAGAATATTTGTGCGAGTCATACAGCTTCTAAAAATTAATAATTCAAAGCACAGATGGTTCTGGTTGTTGCCAGTTAAGCAATCTGGAGTGCCGTTAGCTAAA
GGAACTTTGATTACCCACTGCTACAAAGATCTTGGATTCATGGATTTCATTTGCAGTTTGGTGACAAAATCTGTGAAGGTTTTTGCTGAGTACCCGGGCAGCTCA
GCTCAGTTGAGGGTGCTCTTGGCTTTCTATGCTTCTACCATAGTGTCGGCGCTGGTAGCTGCAGAGGACGTATCAGACAATATCATCGCCAAACTATTTCCCTAT
ATCCAAAAGGGATTGAAATCATCTTTACCAGATTACAGAGCTGCAACATACATGATAATATGTCAGATTTCTGTGAAAGTGACCATGGAAAATACCTTTGTGAAT
TCATTGGCATCACAGATCATCAAAACATTGACCAAGATTCCCTCTTTGATCAAGGATGGGTTAAGTTGCTTGATAGTGCTCCTGCAGAGACAGAAGCCAGAGAGC
CTTGGGAAAAAGCCATTCCCTCACTTATGTAATGTTCCTGATCTTATTACAATACTTCATGGGATTTCTGAAACTTACGATGTCAGTCCTCTTCTGCATTACATG
CTTCCCCATCTGGTCGTCTCCATCATTCATCATGTTACAGGAGAAGAAACTGAAGGAATGGATGGTCAAATCTACAAGAGACACTTAGAAGCTATACTTACAAAA
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>HEATR1|55127|protein
MTSLAQQLQRLALPQSDASLLSRDEVASLLFDPKEAATIDRDTAFAIGCTGLEELLGIDPSFEQFEAPLFSQLAKTLERSVQTKAVNKQLDENISLFLIHLSPYF
LLKPAQKCLEWLIHRFHIHLYNQDSLIACVLPYHETRIFVRVIQLLKINNSKHRWFWLLPVKQSGVPLAKGTLITHCYKDLGFMDFICSLVTKSVKVFAEYPGSS
AQLRVLLAFYASTIVSALVAAEDVSDNIIAKLFPYIQKGLKSSLPDYRAATYMIICQISVKVTMENTFVNSLASQIIKTLTKIPSLIKDGLSCLIVLLQRQKPES
LGKKPFPHLCNVPDLITILHGISETYDVSPLLHYMLPHLVVSIIHHVTGEETEGMDGQIYKRHLEAILTKISLKNNLDHLLASLLFEEYISYSSQEEMDSNKVSL
LNEQFLPLIRLLESKYPRTLDVVLEEHLKEIADLKKQELFHQFVSLSTSGGKYQFLADSDTSLMLSLNHPLAPVRILAMNHLKKIMKTSKEGVDESFIKEAVLAR
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MTSLAQQLQRLALPQSDASLLSRDEVASLLFDPKEAATIDRDTAFAIGCTGLEELLGIDPSFEQFEAPLFSQLAKTLERSVQTKAVNKQLDENISLFLIHLSPYF
LLKPAQKCLEWLIHRFHIHLYNQDSLIACVLPYHETRIFVRVIQLLKINNSKHRWFWLLPVKQSGVPLAKGTLITHCYKDLGFMDFICSLVTKSVKVFAEYPGSS
AQLRVLLAFYASTIVSALVAAEDVSDNIIAKLFPYIQKGLKSSLPDYRAATYMIICQISVKVTMENTFVNSLASQIIKTLTKIPSLIKDGLSCLIVLLQRQKPES
LGKKPFPHLCNVPDLITILHGISETYDVSPLLHYMLPHLVVSIIHHVTGEETEGMDGQIYKRHLEAILTKISLKNNLDHLLASLLFEEYISYSSQEEMDSNKVSL
LNEQFLPLIRLLESKYPRTLDVVLEEHLKEIADLKKQELFHQFVSLSTSGGKYQFLADSDTSLMLSLNHPLAPVRILAMNHLKKIMKTSKEGVDESFIKEAVLAR
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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 | 0 (0) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2001 | USA | microsatellite-based genomic screen |  |  | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
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 |
|---|---|---|---|---|
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
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.