AutismKB 2.0

Evidence Details for SLC40A1


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Basic Information Top
Gene Symbol:SLC40A1 ( FPN1,HFE4,IREG1,MST079,MTP1,SLC11A3 )
Gene Full Name: solute carrier family 40 (iron-regulated transporter), member 1
Band: 2q32.2
Quick LinksEntrez ID:30061; OMIM: 604653; Uniprot ID:S40A1_HUMAN; ENSEMBL ID: ENSG00000138449; HGNC ID: 10909
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC40A1|30061|nucleotide
ATGACCAGGGCGGGAGATCACAACCGCCAGAGAGGATGCTGTGGATCCTTGGCCGACTACCTGACCTCTGCAAAATTCCTTCTCTACCTTGGTCATTCTCTCTCT
ACTTGGGGAGATCGGATGTGGCACTTTGCGGTGTCTGTGTTTCTGGTAGAGCTCTATGGAAACAGCCTCCTTTTGACAGCAGTCTACGGGCTGGTGGTGGCAGGG
TCTGTTCTGGTCCTGGGAGCCATCATCGGTGACTGGGTGGACAAGAATGCTAGACTTAAAGTGGCCCAGACCTCGCTGGTGGTACAGAATGTTTCAGTCATCCTG
TGTGGAATCATCCTGATGATGGTTTTCTTACATAAACATGAGCTTCTGACCATGTACCATGGATGGGTTCTCACTTCCTGCTATATCCTGATCATCACTATTGCA
AATATTGCAAATTTGGCCAGTACTGCTACTGCAATCACAATCCAAAGGGATTGGATTGTTGTTGTTGCAGGAGAAGACAGAAGCAAACTAGCAAATATGAATGCC
ACAATACGAAGGATTGACCAGTTAACCAACATCTTAGCCCCCATGGCTGTTGGCCAGATTATGACATTTGGCTCCCCAGTCATCGGCTGTGGCTTTATTTCGGGA
TGGAACTTGGTATCCATGTGCGTGGAGTACGTTCTGCTCTGGAAGGTTTACCAGAAAACCCCAGCTCTAGCTGTGAAAGCTGGTCTTAAAGAAGAGGAAACTGAA
TTGAAACAGCTGAATTTACACAAAGATACTGAGCCAAAACCCCTGGAGGGAACTCATCTAATGGGTGTGAAAGACTCTAACATCCATGAGCTTGAACATGAGCAA
GAGCCTACTTGTGCCTCCCAGATGGCTGAGCCCTTCCGTACCTTCCGAGATGGATGGGTCTCCTACTACAACCAGCCTGTGTTTCTGGCTGGCATGGGTCTTGCT
TTCCTTTATATGACTGTCCTGGGCTTTGACTGCATCACCACAGGGTACGCCTACACTCAGGGACTGAGTGGTTCCATCCTCAGTATTTTGATGGGAGCATCAGCT
ATAACTGGAATAATGGGAACTGTAGCTTTTACTTGGCTACGTCGAAAATGTGGTTTGGTTCGGACAGGTCTGATCTCAGGATTGGCACAGCTTTCCTGTTTGATC
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>SLC40A1|30061|protein
MTRAGDHNRQRGCCGSLADYLTSAKFLLYLGHSLSTWGDRMWHFAVSVFLVELYGNSLLLTAVYGLVVAGSVLVLGAIIGDWVDKNARLKVAQTSLVVQNVSVIL
CGIILMMVFLHKHELLTMYHGWVLTSCYILIITIANIANLASTATAITIQRDWIVVVAGEDRSKLANMNATIRRIDQLTNILAPMAVGQIMTFGSPVIGCGFISG
WNLVSMCVEYVLLWKVYQKTPALAVKAGLKEEETELKQLNLHKDTEPKPLEGTHLMGVKDSNIHELEHEQEPTCASQMAEPFRTFRDGWVSYYNQPVFLAGMGLA
FLYMTVLGFDCITTGYAYTQGLSGSILSILMGASAITGIMGTVAFTWLRRKCGLVRTGLISGLAQLSCLILCVISVFMPGSPLDLSVSPFEDIRSRFIQGESITP
TKIPEITTEIYMSNGSNSANIVPETSPESVPIISVSLLFAGVIAARIGLWSFDLTVTQLLQENVIESERGIINGVQNSMNYLLDLLHFIMVILAPNPEAFGLLVL
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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) 1 (1) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top