##gff-version 3 O00358 UniProtKB Chain 1 373 . . . ID=PRO_0000091826;Note=Forkhead box protein E1 O00358 UniProtKB DNA binding 53 147 . . . Note=Fork-head;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00089 O00358 UniProtKB Region 19 51 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00358 UniProtKB Natural variant 57 57 . . . ID=VAR_016882;Note=In BAMLAZ%3B without choanal atresia%3B no effect on protein abundance%3B no effect on localization to the nucleus%3B decreased sequence-specific DNA binding%3B decreased transcriptional activity. S->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12165566,ECO:0000269|PubMed:21177256;Dbxref=dbSNP:rs28937575,PMID:12165566,PMID:21177256 O00358 UniProtKB Natural variant 65 65 . . . ID=VAR_008857;Note=In BAMLAZ%3B loss of sequence-specific DNA binding%3B loss of transcriptional activity. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12165566,ECO:0000269|PubMed:21177256,ECO:0000269|PubMed:9697705;Dbxref=dbSNP:rs104894110,PMID:12165566,PMID:21177256,PMID:9697705 O00358 UniProtKB Natural variant 73 73 . . . ID=VAR_075978;Note=In BAMLAZ%3B no effect on protein abundance%3B no effect on sequence-specific DNA binding%3B enhances transcriptional activity toward TG and TPO genes. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24219130;Dbxref=PMID:24219130 O00358 UniProtKB Natural variant 102 102 . . . ID=VAR_027508;Note=In congenital hypothyroidism%3B with absence of thyroid agenesis%3B loss of sequence-specific DNA binding%3B loss of transcriptional activity. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16882747,ECO:0000269|PubMed:21177256;Dbxref=dbSNP:rs104894111,PMID:16882747,PMID:21177256 O00358 UniProtKB Natural variant 132 132 . . . ID=VAR_075979;Note=In congenital hypothyroidism%3B slightly decreased sequence-specific DNA binding to the TPO promoter%3B 0.5 fold decreased transcriptional activity. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20094846;Dbxref=dbSNP:rs762041111,PMID:20094846 O00358 UniProtKB Natural variant 137 137 . . . ID=VAR_075980;Note=In congenital hypothyroidism%3B loss of sequence-specific DNA binding%3B loss of transcriptional activity. F->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20484477,ECO:0000269|PubMed:21177256;Dbxref=PMID:20484477,PMID:21177256 O00358 UniProtKB Natural variant 179 179 . . . ID=VAR_037643;Note=A->AAA O00358 UniProtKB Natural variant 248 248 . . . ID=VAR_075981;Note=In NMTC4%3B increased cell growth%3B increased cell migration. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25381600;Dbxref=dbSNP:rs538912281,PMID:25381600