AutismKB 2.0

Evidence Details for CELF5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CELF5 ( BRUNOL-5,BRUNOL5 )
Gene Full Name: CUGBP, Elav-like family member 5
Band: 19p13.3
Quick LinksEntrez ID:60680; OMIM: 612680; Uniprot ID:CELF5_HUMAN; ENSEMBL ID: ENSG00000161082; HGNC ID: 14058
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CELF5|60680|nucleotide
ATGGCCCGCCTGACGGAGAGCGAGGCGCGCCGGCAGCAGCAGCAGCTCCTGCAGCCGCGGCCCTCGCCCGTGGGCAGCAGCGGGCCCGAGCCCCCCGGGGGGCAG
CCCGACGGCATGAAGGACCTGGACGCCATCAAACTCTTCGTGGGCCAGATCCCGCGGCACCTGGACGAGAAGGACCTCAAGCCGCTCTTCGAGCAGTTCGGCCGC
ATCTACGAGCTCACGGTGCTCAAAGACCCCTACACGGGGATGCACAAAGGCTGTGCCTTCCTCACCTACTGTGCCAGGGATTCCGCCATCAAAGCTCAGACTGCC
CTGCACGAGCAGAAGACCTTGCCCGGAATGGCGCGGCCAATCCAGGTGAAGCCTGCGGACAGTGAAAGCCGCGGAGGTAGGGACCGGAAGCTGTTCGTGGGGATG
CTGAACAAGCAGCAGTCGGAGGAGGACGTGCTGCGGCTGTTCCAGCCCTTCGGGGTCATTGACGAGTGCACCGTGCTCCGGGGGCCTGACGGCAGCAGCAAAGGC
TGTGCTTTCGTGAAGTTCTCCTCCCACACGGAGGCGCAGGCGGCCATCCACGCCTTGCATGGGAGCCAGACCATGCCGGGAGCCTCCTCCAGCCTGGTGGTCAAG
TTCGCCGACACGGACAAGGAGCGGACGCTCCGGCGCATGCAGCAGATGGTGGGCCAGCTGGGCATCCTGACGCCGTCCCTCACATTGCCCTTCAGCCCCTACAGT
GCCTACGCCCAGGCTCTCATGCAACAGCAGACAACAGTCCTGTCCACCTCGGGCAGCTACCTGAGTCCCGGCGTGGCCTTCTCACCCTGTCACATCCAGCAGATA
GGCGCCGTCAGCCTCAACGGGCTGCCTGCCACACCCATCGCTCCTGCCTCTGGTGTCGTGCCCTTTCCAGGTGGGCACCCTGCCCTGGAAACCGTCTATGCCAAT
GGCCTTGTGCCCTACCCAGCTCAGAGCCCGACTGTGGCCGAGACACTGCATCCTGCCTTCTCCGGAGTCCAGCAGTACACAGCCATGTACCCCACCGCGGCCATC
ACGCCCATCGCGCACAGCGTCCCCCAGCCGCCGCCCCTCCTGCAGCAGCAGCAGCGAGAAGGAGTTTGGAGACACGGAGCTGACGCAGATGTTCCTACCCTTCGG
Show »

>CELF5|60680|protein
MARLTESEARRQQQQLLQPRPSPVGSSGPEPPGGQPDGMKDLDAIKLFVGQIPRHLDEKDLKPLFEQFGRIYELTVLKDPYTGMHKGCAFLTYCARDSAIKAQTA
LHEQKTLPGMARPIQVKPADSESRGGRDRKLFVGMLNKQQSEEDVLRLFQPFGVIDECTVLRGPDGSSKGCAFVKFSSHTEAQAAIHALHGSQTMPGASSSLVVK
FADTDKERTLRRMQQMVGQLGILTPSLTLPFSPYSAYAQALMQQQTTVLSTSGSYLSPGVAFSPCHIQQIGAVSLNGLPATPIAPASGVVPFPGGHPALETVYAN
GLVPYPAQSPTVAETLHPAFSGVQQYTAMYPTAAITPIAHSVPQPPPLLQQQQREGVWRHGADADVPTLRQYHFLQGVYGSSYQPEQVFRLREL

Show »

Evidence summary Top

Click 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 1 (1) 0 (1) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 7 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
MIXED/OTHERS
Connolly S, 2017_2 - Illumina 1Mv1;Illumina 1Mv3 Duo; Illumina HumanOmni2.5 M 2591 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top