AutismKB 2.0

Evidence Details for HEATR1


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Basic Information Top
Gene Symbol:HEATR1 ( BAP28,FLJ10359,MGC72083 )
Gene Full Name: HEAT repeat containing 1
Band: 1q43
Quick LinksEntrez 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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>HEATR1|55127|protein
MTSLAQQLQRLALPQSDASLLSRDEVASLLFDPKEAATIDRDTAFAIGCTGLEELLGIDPSFEQFEAPLFSQLAKTLERSVQTKAVNKQLDENISLFLIHLSPYF
LLKPAQKCLEWLIHRFHIHLYNQDSLIACVLPYHETRIFVRVIQLLKINNSKHRWFWLLPVKQSGVPLAKGTLITHCYKDLGFMDFICSLVTKSVKVFAEYPGSS
AQLRVLLAFYASTIVSALVAAEDVSDNIIAKLFPYIQKGLKSSLPDYRAATYMIICQISVKVTMENTFVNSLASQIIKTLTKIPSLIKDGLSCLIVLLQRQKPES
LGKKPFPHLCNVPDLITILHGISETYDVSPLLHYMLPHLVVSIIHHVTGEETEGMDGQIYKRHLEAILTKISLKNNLDHLLASLLFEEYISYSSQEEMDSNKVSL
LNEQFLPLIRLLESKYPRTLDVVLEEHLKEIADLKKQELFHQFVSLSTSGGKYQFLADSDTSLMLSLNHPLAPVRILAMNHLKKIMKTSKEGVDESFIKEAVLAR
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Evidence summary Top

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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) 0 (0) 0 (2) 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 - - - - -
Linkage Studies Top