AutismKB 2.0

Evidence Details for ERC1


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Basic Information Top
Gene Symbol:ERC1 ( Cast2,ELKS,FLJ31750,KIAA1081,MGC12974,RAB6IP2 )
Gene Full Name: ELKS/RAB6-interacting/CAST family member 1
Band: 12p13.33
Quick LinksEntrez ID:23085; OMIM: 607127; Uniprot ID:RB6I2_HUMAN; ENSEMBL ID: ENSG00000082805; HGNC ID: 17072
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ERC1|23085|nucleotide
ATGTATGGAAGTGCCCGCTCTGTTGGGAAGGTGGAGCCGAGCAGCCAGAGCCCTGGGCGTTCACCCAGGCTTCCACGTTCCCCTCGCTTGGGTCACCGTCGAACC
AACAGTACGGGAGGGAGTTCGGGAAGCAGTGTTGGAGGTGGCAGTGGGAAAACCCTTTCAATGGAAAATATACAATCTTTAAATGCTGCCTATGCCACCTCTGGC
CCTATGTATCTAAGTGACCATGAAAATGTGGGTTCAGAAACACCTAAAAGCACCATGACACTTGGCCGTTCTGGGGGACGTCTGCCTTACGGTGTTCGGATGACT
GCTATGGGTAGTAGCCCCAATATAGCTAGCAGTGGGGTTGCTAGTGACACCATAGCATTTGGAGAGCATCACCTCCCTCCTGTGAGTATGGCATCCACTGTACCT
CACTCCCTTCGTCAGGCGAGAGATAACACAATCATGGATCTGCAGACACAGCTGAAGGAAGTATTAAGAGAAAATGATCTCTTGCGGAAGGATGTGGAAGTAAAG
GAGAGCAAATTGAGTTCTTCAATGAATAGCATCAAGACCTTCTGGAGCCCAGAGCTGAAGAAGGAACGAGCCCTGAGAAAAGATGAAGCTTCCAAAATCACCATT
TGGAAGGAACAGTACAGAGTTGTACAGGAGGAAAACCAGCACATGCAGATGACAATCCAGGCTCTCCAGGATGAATTGCGGATCCAGAGGGACCTGAATCAGCTG
TTTCAGCAGGATAGTAGCAGCAGGACTGGCGAACCTTGTGTAGCAGAGCTGACAGAGGAGAACTTTCAGAGGCTTCATGCTGAGCATGAGCGGCAGGCCAAAGAG
CTGTTTCTTCTTCGAAAGACATTGGAGGAAATGGAGCTGCGTATTGAGACTCAAAAGCAGACCCTAAATGCTCGGGATGAATCCATTAAGAAGCTTCTGGAAATG
TTGCAGAGCAAAGGACTTTCTGCCAAGGCTACCGAGGAAGACCATGAGAGAACAAGACGACTGGCAGAGGCAGAGATGCACGTTCATCACCTAGAAAGCCTTTTG
GAGCAGAAGGAAAAAGAGAACAGTATGTTGAGAGAGGAGATGCATCGAAGGTTTGAGAATGCTCCTGATTCTGCCAAAACAAAAGCTCTGCAAACTGTTATTGAG
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>ERC1|23085|protein
MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLSDHENVGSETPKSTMTLGRSGGRLPYGVRMT
AMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNTIMDLQTQLKEVLRENDLLRKDVEVKESKLSSSMNSIKTFWSPELKKERALRKDEASKITI
WKEQYRVVQEENQHMQMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRLHAEHERQAKELFLLRKTLEEMELRIETQKQTLNARDESIKKLLEM
LQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSMLREEMHRRFENAPDSAKTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEERE
EEMKQMEVYRSHSKFMKNKIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVDALRLRLEEKETMLNKKTKQIQDMAEEKG
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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 (0) 1 (1) 0 (0) 0 (1) 0 (0) 0 (0) 3 (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
Silva IM, 2014 - aCGH;FISHASD - - - - 1 - 1
Linkage Studies Top